Research Explorer

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Researcher

Anne De Paepe

659 Results

2022

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Rathika D. ShenoyVikram ShettyAnnelies DheedeneBjörn MentenDechamma Pandyanda NanjappaGunimala ChakrabortyPatrick SipsAnne De PaepeBert CallewaertAnirban Chakraborty

A1 Journal Article in CLEFT PALATE-CRANIOFACIAL JOURNAL

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-JawahiriAidin ForoutanJennifer KerkhofHaley McConkeyMichael LevySadegheh HaghshenasKathleen RooneyJasmin TurnerDebbie ShearsMuriel Holder et al.

A1 Journal Article in GENETICS IN MEDICINE

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M. BlairJeroen BreckpotAnna de Burca et al.

A1 Journal Article in GENETICS IN MEDICINE

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J. Lefeber et al.

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in CLINICAL GENETICS

2019

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht GuillemynHülya KayseriliLynn DemuynckPatrick SipsAnne De PaepeDelfien SyxPaul CouckeFransiska MalfaitSofie Symoens

A1 Journal Article in HUMAN MOLECULAR GENETICS

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Delfien SyxInge De WandeleSofie SymoensRiet De RyckeOlivier HougrandNicol VoermansAnne De PaepeFransiska Malfait

A1 Journal Article in HUMAN MOLECULAR GENETICS

Creatine transporter defect masquerading as Lujan Syndrome

Julie R JonesTim WoodAnne De PaepeJules G. LeroyRoger E Stevenson

A2 Journal Article in ANNALS OF PEDIATRIC RESEARCH

De arts van morgen moet vertrouwd zijn met de basisbegrippen van de genetica

Bookchapter in Brieven aan jonge artsen

Health-related quality of life in children and young adults with Marfan syndrome

Jill C HandisidesDanielle Hollenbeck-PringleKaren UzarkFelicia L TrachtenbergVictoria L PembertonTeresa W AtzTimothy J BradleyElizabeth CappellaSylvia De NobeleGeorgeann Keh-Teng Groh et al.

A1 Journal Article in JOURNAL OF PEDIATRICS

The Ehlers-Danlos syndromes : expanding, redefining and reviewing the spectrum

Tim Van DammeFransiska MalfaitAnne De Paepe

The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype

Eva De VilderL. MartinG. LeftheriotisPaul CouckeAnne De PaepeFilip Van NieuwerburghOlivier Vanakker

2018

A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht GuillemynDelfien SyxL DemuynckH KayseriliAnne De PaepePaul CouckeFransiska MalfaitSofie Symoens

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

A1 Journal Article in GENETICS IN MEDICINE

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

Annekatrien BoelHanna De SaffelWouter SteyaertBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in DISEASE MODELS & MECHANISMS

Cardiovascular manifestations in inherited connective tissue disorders

Julie De BackerAnne De Paepe

Bookchapter in Cardiovascular genetics and genomics : principles and clinical practice

Classic Ehlers-Danlos syndrome

Fransiska MalfaitRichard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Delineation of a clinical scoring system and diagnostic criteria for CCA

Ilse MeerschautShana De ConinckAnnelies MatthysBjorn TuytensWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie Symoens et al.

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Osama EssawiSofie SymoensMaha FannanaMohammad DarwishMohammad FarrajAndy WillaertTamer EssawiBert CallewaertAnne De PaepeFransiska Malfait et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Brecht GuillemynDelfien SyxToon RosseelH KayserliliAM Cueto-GonzálezL Van MaldergemBjörn MentenAnne De PaepePaul CouckeFransiska Malfait et al.

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

Eva De VilderSTEFANIE CARDOENMohammad J HosenOlivier Le SauxJulie De ZaeytijdBart LeroyJacques De ReuckPaul CouckeAnne De PaepeDimitri Hemelsoet et al.

A1 Journal Article in BRAIN PATHOLOGY

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño MosqueraFelke SteijnsTjorven AudenaertIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn Renard et al.

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Sanne D'hondtBrecht GuillemynDelfien SyxSofie SymoensRiet De RyckeLeen VanhoutteWendy ToussaintBart LambrechtAnne De PaepeDouglas R Keene et al.

A1 Journal Article in MATRIX BIOLOGY

Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model

Sarah DelbaereTim Van DammeDelfien SyxPaul CouckeAnne De PaepeSofie SymoensAndy WillaertFransiska Malfait

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte GistelinckRonald Y KwonFransiska MalfaitSofie SymoensMatthew P HarrisKatrin HenkeMichael B HawkinsShannon FisherPatrick SipsBrecht Guillemyn et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

2017

A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review

Mehmet B DuzEmre KiratPaul CouckeErkan KoparirAlper GezdiriciAnne De PaepeBert CallewaertMehmet Seven

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Arterial tortuosity syndrome : 37 new families and literature review

Aude BeyensJuliette AlbuissonT BusaN CanhamJM ChopinM DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaDamien BonnetO BostanOdile BouteT BusaN CanhamErgun Cil et al.

Attitudes of European geneticists regarding expanded carrier screening

Sandra JanssensDavit ChokoshviliDanya VearsAnne De PaepePascal Borry

A1 Journal Article in JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome : a randomized, double-blind clinical trial

Laura Muiño MosqueraSylvia De NobeleDaniel DevosLaurence CampensAnne De PaepeJulie De Backer

A1 Journal Article in ACTA CARDIOLOGICA

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J Lefeber et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta

Joan C MariniAntonella ForlinoHans Peter BachingerNick J BishopPeter H ByersAnne De PaepeFrancois FassierNadja Fratzl-ZelmanKenneth M KozloffDeborah Krakow et al.

A1 Journal Article in NATURE REVIEWS DISEASE PRIMERS

Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views

Sandra JanssensDavit ChokoshviliDanya F VearsAnne De PaepePascal Borry

A1 Journal Article in BMC MEDICAL ETHICS

The 2017 International Classification of the Ehlers-Danlos Syndromes

Fransiska MalfaitClair FrancomanoPeter ByersJohn BelmontBritta BerglundJames BlackLara BloomJessica M BowenAngela F BradyNigel P Burrows et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Sofie SymoensWouter SteyaertLynn DemuynckAnne De PaepeKarin EM DiderichFransiska MalfaitPaul Coucke

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht GuillemynTim Van DammeDelfien SyxS NampoothiriH KayseriliAM Cueto-GonzálezL Van MaldergemAnne De PaepeFransiska MalfaitPaul Coucke et al.

2016

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Keiko ShimojimaSatoshi NaraiMasami TogawaTomotsune DoumotoNoriko SanguOlivier VanakkerAnne De PaepeMatthew EdwardsJohn WhitehallSally Brescianini et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies

Brecht GuillemynTim Van DammeWouter SteyaertDelfien SyxPaul CouckeAnne De PaepeSofie SymoensSheela NampoothiriFransiska Malfait

An exploratory case-control study on the impact of IL-1 gene polymorphisms on early implant failure

Jan CosynVéronique ChristiaensVINCENT KONINGSVELDPaul CouckePeter De CosterAnne De PaepeHugo De Bruyn

A1 Journal Article in CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH

Arterial tortuosity syndrome : 29 novel families

Aude BeyensJuliette AlbuissonT BusaN CanhamJM CM. DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management

Eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

Sandra JanssensDavit ChokoshvilliCarmen BinstInge MahieuLidewij HennemanAnne De PaepePascal Borry

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in SCIENTIFIC REPORTS

Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Mine Arslan-KirchnerEloisa ArbustiniCatherine BoileauPhilippe CharronAnne H ChildGwenaelle Collod-BeroudJulie De BackerAnne De PaepeAnna DierkingLaurence Faivre et al.

Editorial material

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Dissection of genotypic and cardiovascular phenotypic features of heritable connective tissue disorders

Laurence CampensJulie De BackerAnne De Paepe

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Tim Van DammeAlain ColigeDelfien SyxCecilia GiuntaUschi LindertMarianne RohrbachOmid AryaniYasemin AlanayPelin Özlem Simsek-KiperHester Y Kroes et al.

A1 Journal Article in GENETICS IN MEDICINE

Fibroblasts in soft tissue mineralization display an osteogenic expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker

Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad HosenPaul CouckeOlivier LeSauxAnne De PaepeOlivier Vanakker

Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad Jakir HosenPaul CouckeOlivier LeSauxAnne De PaepeOlivier Vanakker

Identification of von Willebrand disease type 1 in a patient with Ehlers–Danlos syndrome classic type

HW OttS PerkhoferPaul CouckeAnne De PaepeM Spannagl

A1 Journal Article in HAEMOPHILIA

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Charlotte GistelinckPaul WittenAnn HuysseuneSofie SymoensFransiska MalfaitDaria LarionovaPascal SimoensManuel DierickLuc Van HoorebekeAnne De Paepe et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome

Inge De WandeleLies RombautTine De BackerWim PeersmanHellen Da Silva Van den BoschSophie De MitsAnne De PaepePatrick CaldersFransiska Malfait

A1 Journal Article in RHEUMATOLOGY

RT-qPCR gene expression analysis in zebrafish : preanalytical precautions and use of expressed repetitive elements for normalization

Suzanne VanhauwaertSteve LefeverPaul CouckeFranki SpelemanAnne De PaepeJo VandesompeleAndy Willaert

A1 Journal Article in Methods in Cell Biology

Stickler syndrome: comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin

Charlotte GistelinckR GioiaA GagliardiF TonelliL MarcheseL BianchiC LandiL BiniAnn HuysseunePaul Witten et al.

A1 Journal Article in SCIENTIFIC REPORTS

2015

A zebrafish model for Bruck syndrome caused by PLOD2 mutations

Charlotte GistelinckAndy WillaertPascal SimoensSofie SymoensPaul WittenAnn HuysseuneChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Timothy R RebbeckNandita MitraFei WanOlga M SinilnikovaSue HealeyLesley McGuffogSylvie MazoyerGeorgia Chenevix-TrenchDouglas F EastonAntonis C Antoniou et al.

A1 Journal Article in JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status

Sandra JanssensLouiza KalokairinouDavit ChokoshvilliCarmen BinstInge MahieuLidewij HennemanAnne De PaepePascal Borry

A1 Journal Article in PERSONALIZED MEDICINE

Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I

Pascal SimoensCharlotte GistelinckSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta

Delfien SyxBrecht GuillemynSofie SymoensAna Berta SousaAna MedeiraMargo WhitefordTrinh Hermanns-LêPaul CouckeAnne De PaepeFransiska Malfait

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data : a report from the Marfan Treatment Trialists' Collaboration

Alex PitcherJonathan EmbersonRonald V LacroLynn A SleeperMario StylianouLynn MahonyGail D PearsonMaarten GroeninkBarbara J MulderAeilko H Zwinderman et al.

A1 Journal Article in AMERICAN HEART JOURNAL

Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum

Mohammad Jakir HosenFilip Van NieuwerburghWouter SteyaertDieter DeforceLudovic MartinGeorges LeftheriotisAnne De PaepePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family

Delfien SyxSofie SymoensWouter SteyaertAnne De PaepePaul CouckeFransiska Malfait

A1 Journal Article in DISEASE MARKERS

Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients

Laurence CampensBert CallewaertLaura Muiño MosqueraMarjolijn RenardSofie SymoensAnne De PaepePaul CouckeJulie De Backer

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia

Sofie SymoensAileen M BarnesCharlotte GistelinckFransiska MalfaitBrecht GuillemynWouter SteyaertDelfien SyxSanne D'hondtMartine BiervlietJulie De Backer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Delfien SyxTim Van DammeSofie SymoensMerel C MaiburgIngrid van de LaarJenny MortonMohnish SuriMiguel Del CampoIngrid HausserTrinh Hermanns-Lê et al.

A1 Journal Article in HUMAN MUTATION

Genetics of the Ehlers-Danlos syndrome: more than collagen disorders

Tim Van DammeDelfien SyxPaul CouckeSofie SymoensAnne De PaepeFransiska Malfait

A1 Journal Article in EXPERT OPINION ON ORPHAN DRUGS

Intrinsic cardiomyopathy in Marfan syndrome: results from in- and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans

Laurence CampensMarjolijn RenardBram TrachetPatrick SegersLaura Muiño MosqueraJohan De SutterLynn SakaiAnne De PaepeJulie De Backer

A1 Journal Article in PEDIATRIC RESEARCH

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists

Lies RombautJanet DeaneJane SimmondsInge De WandeleAnne De PaepeFransiska MalfaitPatrick Calders

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Marfan syndrome and related heritable thoracic aortic aneurysms and dissections

Julie De BackerMarjolijn RenardLaurence CampensLaura Muiño MosqueraAnne De PaepePaul CouckeBert CallewaertYskert von Kodolitsch

A1 Journal Article in CURRENT PHARMACEUTICAL DESIGN

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population

Osama EssawiMohammad A FarrajKim De LeeneerWouter SteyaertKatia De PauwAnne De PaepeKathleen ClaesTamer EssawiPaul Coucke

A1 Journal Article in DISEASE MARKERS

Novel insights in the pathogenesis of pseudoxanthoma elasticum

Mohammad Jakir HosenAnne De PaepeOlivier Vanakker

Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach

Eva De VilderMohammad Jakir HosenPaul CouckeAnne De PaepeAriana KariminejadGeorges LefthériotisFilip Van NieuwerburghLudovic MartinOlivier Vanakker

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

Patrick SantensTim Van DammeWouter SteyaertAndy WillaertBernard SablonnièreAnne De PaepePaul CouckeBart Dermaut

A1 Journal Article in NEUROLOGY

Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome

Sofie SymoensWouter SteyaertLynn DemuynckFransiska MalfaitAnne De PaepeKarin EM DiderichPaul Coucke

Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensWendy ToussaintLeen VanhoutteRiet De RyckePaul CouckeBart LambrechtPatrick SegersAnne De Paepe et al.

Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensWendy ToussaintLeen VanhoutteRiet De RyckePaul CouckePatrick SegersBart LambrechtAnne De Paepe et al.

Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum

Eva De VilderFilip Van NieuwerburghDieter DeforceLudovic MartinGeorges LefthériotisPaul CouckeAnne De PaepeOlivier Vanakker

Whole exome sequencing as a novel tool for the detection of modifier genes in pseudoxanthoma elasticum

Eva De VilderFilip Van NieuwerburghDieter DeforceLudovic MartinGeorges LefthériotisAnne De PaepeOlivier Vanakker

2014

A zebrafish model for Bruck Syndrome caused by PLOD2 mutations

Andy WillaertCharlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model

Marjolijn RenardBram TrachetChristophe CasteleynLaurence CampensPieter CornillieBert CallewaertSteven DeleyeBert VandeghinstePaula van HeijningenHarry Dietz et al.

A1 Journal Article in PLOS ONE

Anne De Paepe & Elisabeth Monard : dubbelinterview door Jan Van Pelt

Anne De PaepeElisabeth MonardJan Van Pelt

Arterial tortuosity syndrome

Bert CallewaertAnne De PaepePaul Coucke

Bookchapter in GeneReviews®

Attitudes of health care professionals toward carrier screening for cystic fibrosis: a review of the literature

Sandra JanssensAnne De PaepePascal Borry

A2 Journal Article in JOURNAL OF COMMUNITY GENETICS

Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls

Inge De WandelePatrick CaldersWim PeersmanSTEVEN RIMBAUTTine De BackerFransiska MalfaitAnne De PaepeLies Rombaut

A1 Journal Article in SEMINARS IN ARTHRITIS AND RHEUMATISM

Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I

Charlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

Compound heterozygous mutations of the TNXB gene cause primary myopathy: response

Valérie AllamandPhilippe BeurrierLudovic MartinFransiska MalfaitDelfien SyxAnne De Paepe

A1 Journal Article in NEUROMUSCULAR DISORDERS

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Virendra MeharDinesh YadavRavindra KumarSummi YadavKuldeep SinghBert CallewaertShahnawaz ParhanAnne De PaepePaul Coucke

A2 Journal Article in JOURNAL OF PEDIATRIC GENETICS

De vakantiejob van Anne De Paepe

Paulien SouverynsAnne De Paepe

Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development

Sofie SymoensAileen BarnesCharlotte GistelinckFransiska MalfaitKris VleminckxBrecht GuillemynDelfien SyxWouter SteyaertEef ParthoensMartine Biervliet et al.

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Barbara Oehl-JaschkowitzOlivier VanakkerAnne De PaepeBjörn MentenThomas MartinGeorg WeberAlexander ChristmannRomain KrierSimone ScheidSusan E McNerlan et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

Inge De WandeleLies RombautLuc LeybaertPhilippe Van de BorneTine De BackerFransiska MalfaitAnne De PaepePatrick Calders

A1 Journal Article in SEMINARS IN ARTHRITIS AND RHEUMATISM

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country

Sheela NampoothiriDhanya YesodharanGazel SainulabdinDhanyalakshmi NarayananLaxmi PadmanabhanKatta Mohan GirishaSara S CatheyAnne De PaepeFransiska MalfaitDelfien Syx et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Endogenous pain modulation in the Ehlers-Danlos syndrome, hypermobility type

Inge De WandeleLinda HermansLies RombautMira MeeusGRIET BRUSSELMANSFransiska MalfaitAnne De PaepePatrick Calders

Bart DermautSandra JanssensAriane Van TongerlooAnne De Paepe

Bookchapter in Dementie op jonge leeftijd

Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies

Suzanne VanhauwaertGert Van PeerAli RihaniEls JanssensPieter RondouSteve LefeverAnne De PaepePaul CouckeFranki SpelemanJo Vandesompele et al.

A1 Journal Article in PLOS ONE

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene

Ramiah RajeshkannanChinmay KulkarniMahesh KappanayilSheela NampoothiriFransiska MalfaitAnne De PaepeSrikanth Moorthy

A1 Journal Article in EUROPEAN RADIOLOGY

Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling

Reed PyeritzGuillaume JondeauRocio MoranJulie De BackerEloisa ArbustiniAnne De PaepeDianna Milewicz

A1 Journal Article in GENETICS IN MEDICINE

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

Rie Harbou NielsenChristian CouppéJacob Kildevang JensenMorten Raun OlsenKatja Maria HeinemeierFransiska MalfaitSofie SymoensAnne De PaepePeter SchjerlingStig Peter Magnusson et al.

A1 Journal Article in FASEB JOURNAL

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter

Mohammad Jakir HosenAbdullah ZubaerSimrika ThapaBijendra KhadkaAnne De PaepeOlivier Vanakker

A1 Journal Article in PLOS ONE

Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing

Laurence CampensLaura Muiño MosqueraBert CallewaertMarjolijn RenardMachteld BaetensAnne De PaepePaul CouckeJulie De Backer

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

Adeline JacquinetAlain VerloesBert CallewaertChristine CoremansPaul CouckeAnne De PaepeUwe KornakFrederic LebrunJacques LombetGérald E Piérard et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Saiqa YasmeenKatrine LundAnne De PaepeSylvia De BieArvid HeibergJoão SilvaMárcia MartinsTina SkjørringeLisbeth B Møller

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta: meer dan alleen collageen?

Michaël Vanden BulckeSofie SymoensFransiska MalfaitAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

Mohammad Jakir HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancer

Tom Van MaerkenAli RihaniAlan Van GoethemAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in CANCER LETTERS

Phf6 plays a role in hematopoiesis and thymopoiesis in zebrafish

Els JanssensSuzanne VanhauwaertAndy WillaertKaat DurinckAnne De PaepePieter Van VlierberghePieter RondouFranki Speleman

Rector Anne De Paepe : de Gentse Universiteit is een wereldspeler geworden

Anne De PaepeChristophe Lambert

Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories

Laurence CampensLAURENT DEMULIERKatya De GrooteKristof VandekerckhoveDaniël De WolfMary J RomanRichard B DevereuxAnne De PaepeJulie De Backer

A1 Journal Article in AMERICAN JOURNAL OF CARDIOLOGY

The Ehlers-Danlos syndrome

Fransiska MalfaitAnne De Paepe

A1 Journal Article in ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure

Sofie SymoensDavid JS HulmesJean-Marie BourhisPaul CouckeAnne De PaepeFransiska Malfait

A1 Journal Article in HUMAN MUTATION

Anne De PaepeBart Van der Straeten

Editorial material

2013

Arguments for dysfunctional pain in Ehlers-Danlos syndrome hypermobility type

Inge De WandeleLies RombautLinda HermansMira MeeusJessica Van OosterwijckFransiska MalfaitAnne De PaepePatrick Calders

C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses

Sanne D'hondtSofie SymoensSophie JanssensAnne De PaepeMathieu BertrandFransiska Malfait

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersBart LeroyJulie De ZaeytijdDirk VoetAnne De PaepeTine De BackerJulie De Backer

A1 Journal Article in ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome

Inge De WandeleLies RombautFransiska MalfaitTine De BackerAnne De PaepePatrick Calders

A1 Journal Article in RESEARCH IN DEVELOPMENTAL DISABILITIES

Compound heterozygous mutations of the TNXB gene cause primary myopathy

Isabelle Pénisson-BesnierValérie AllamandPhilippe BeurrierLudovic MartinJoost SchalkwijkIvonne van Vlijmen-WillemsCorine GartiouxFransiska MalfaitDelfien SyxLaurent Macchi et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Bert CallewaertChi-Ting SuTim Van DammePhilip VlummensFransiska MalfaitOlivier VanakkerBianca SchulzMeghan Mac NealElaine C DavisJoseph GH Lee et al.

A1 Journal Article in HUMAN MUTATION

Copper deficiency in patients with cystinosis with cysteamine toxity

Martine T BesouwJerry SchneiderMirian C JanssenMarcella GrecoFrancesco EmmaElisabeth A CornelissenKoen DesmetFlemming SkovbyFrançois NobiliMarc R Lillen et al.

A1 Journal Article in JOURNAL OF PEDIATRICS

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

Fransiska MalfaitAriana KariminejadTim Van DammeCaroline GaucheDelfien SyxFaten Merhi-SoussiSandrine GulbertiSofie SymoensSuzanne VanhauwaertAndy Willaert et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Sofie SymoensFransiska MalfaitSanne D'hondtBert CallewaertAnnelies DheedeneWouter SteyaertHans Peter BächingerAnne De PaepeHulya KayseriliPaul Coucke

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Disorders of connective tissue and extracellular matrix

Fransiska MalfaitAnne De Paepe

Bookchapter in Hemostatis and thrombosis : basic principles and clinical practice

Ectopic soft tissue calcification: process, determinants and health impact

Olivier VanakkerMohammad Jakir HosenAnne De Paepe

Bookchapter in Calcification : processes, determinants and health impact

Ehlers-Danlos Syndrome

Fransiska MalfaitAnne De Paepe

Bookchapter in Brenner's encyclopedia of genetics, vol. 2

Ehlers-Danlos syndrome type VIII : a rare cause of leg ulcers in young patients

Sophie RoncerayJuliette MiquelAntoine LucasGérald E PiérardTrinh Hermanns-LêAnne De PaepeAlain Dupuy

A2 Journal Article in CASE REPORTS IN DERMATOLOGICAL MEDICINE

First report of the genetic background of Marfan syndrome in Polish patients

Ewa WypasekDaniel P PotaczekRenata StaporPaul CouckeJulie De BackerAnne De PaepeAnetta Undas

A1 Journal Article in POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE

Genes in thoracic aortic aneurysms/dissections : do they matter?

Julie De BackerLaurence CampensAnne De Paepe

A2 Journal Article in ANNALS OF CARDIOTHORACIC SURGERY

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Fransiska MalfaitSofie SymoensNathalie GoemansYolanda GyftodimouEva HolmbergVanesa Lopez-GonzalezGeert MortierSheela NampoothiriMichael Bjorn PetersenAnne De Paepe

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Hoop voor de toekomst: genen geven hun geheimen prijs

Marfan related cardiomyopathy: an in vivo and in vitro study of the fbn1C1039G/+ mouse model

Laurence CampensMarjolijn RenardBram TrachetPatrick SegersAnne De PaepeJulie De Backer

Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome

Thomas MartensIsabelle Van HerzeeleFREDERIC DE RYCKMarjolijn RenardAnne De PaepeKatrien FrancoisFrank VermassenJulie De Backer

Editorial material

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections

Laurence CampensMarjolijn RenardBert CallewaertPaul CouckeJulie De BackerAnne De Paepe

A1 Journal Article in POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE

Normal values for ascending aortic diameters with 2D echocardiography

Laurence CampensLAURENT DEMULIERMary RomanRichard DevereuxAnne De PaepeJulie De Backer

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn RenardBert CallewaertMachteld BaetensLaurence CampensKay MacDermotJean-Pierre FrynsMarise BonduelleHarry C DietzIsabel Mendes GasparDiogo Cavaco et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications

Olivier VanakkerAnne De Paepe

A2 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRICS

Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy

Wim TerrynGert DeschoenmakereJan De KeyserWouter MeerssemanWim Van BiesenBrigitte WuytsDimitri HemelsoetHilbert PascaleJulie De BackerAnne De Paepe et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT

Wim TerrynRaymond VanholderDimitri HemelsoetBart LeroyWim Van BiesenG De SchoenmakereBrigitte WuytsKathleen ClaesJulie De BackerAnne De Paepe et al.

Bookchapter in JIMD reports : case and research reports 2012/5

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum

Alexander JanssenMohammad Jakir HosenPhilippe JeanninPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Selective inhibition of the p53–MDM2 interaction by nutlin drugs: a new therapeutic perspective for neuroblastoma

Tom Van MaerkenAli RihaniAlan Van GoethemAnne De PaepeFranki SpelemanJo Vandesompele

A2 Journal Article in PROCEEDINGS OF THE BELGIAN ROYAL ACADEMIES OF MEDICINE

Sequence alterations in the carboxyl-terminal propeptide domain

Fransiska MalfaitSofie SymoensAnne De Paepe

Bookchapter in Osteogenesis imperfecta : a translational approach to brittle bone disease

Study of the molecular pathogenesis of thoracic aortic aneurysms

Marjolijn RenardAnne De PaepeJulie De Backer

The ABCC6 transporter : what lessons can be learnt from other ATP-binding cassette transporters?

Olivier VanakkerMohammad Jakir HosenAnne De Paepe

A2 Journal Article in FRONTIERS IN GENETICS

The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

Robin FearsVolker ter Meulenthe EASAC-FEAM Working GroupAnne De Paepe

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

Marjolijn RenardBert CallewaertFransiska MalfaitLaurence CampensSaba SharifMiguel del CampoIrene ValenzuelaCatherine McwilliamPaul CouckeAnne De Paepe et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-RabiaBert CallewaertEmmanuelle BourratMarlies KempersAstrid S PlompValerie LayetDeborah BartholdiMarjolijn RenardJulie De BackerFransiska Malfait et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Zebrafish models for ectopic mineralization disorders : practical issues from morpholino design to post-injection observations

Mohammad Jakir HosenOlivier VanakkerAndy WillaertAnn HuysseunePaul CouckeAnne De Paepe

A2 Journal Article in FRONTIERS IN GENETICS

2012

Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants

Denise van der LindeIngrid MBH van de LaarAida M Bertoli-AvellaRogier A OldenburgJos A BekkersFrancesco US Mattace-RasoAnton H van den MeirackerAdriaan MoelkerFop van KootenIngrid ME Frohn-Mulder et al.

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

A JakubowskaD RozkrutA AntoniouU HamannRJ ScottL McGuffogS HealyOM SinilnikovaG RennertF Lejbkowicz et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

Autonomic function tests in patients with the hypermobility type of Ehlers-Danlos syndrome

Inge De WandeleLies RombautTine De BackerJohan RyckaertPatrick CaldersFransiska MalfaitAnne De Paepe

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Mahesh KappanayilSheela NampoothiriRajesh KannanMarjolijn RenardPaul CouckeFransiska MalfaitSwapna MenonHiran K RavindranRenu KurupMuhammad Faiyaz-Ul-Haque et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Clinical characteristics, functional impairment and quality of life in the hypermobility syndromes

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie SymoensDelfien SyxFransiska MalfaitBert CallewaertJulie De BackerOlivier VanakkerPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome

Yike KangSofie SymoensFransiska MalfaitPaul CouckeMarjolijn RenardBrecht GuillemynJulie De BackerFilipe Branco MadeiraWendy ToussaintLeen Vanhoutte et al.

Dickkopf-3 is regulated by the MYCN-induced miR-17-92 cluster in neuroblastoma

Sara De BrouwerPieter MestdaghIrina LambertzFilip PattynAnne De PaepeFrank WestermannChristina SchroederJohannes H SchulteAlexander SchrammKatleen De Preter et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Direct-to-consumer genetic testing for health-related purposes in the European Union

the EASAC and FEAM Workin GroupVolker ter MeulenStefania BocciaMartina CornelMarc DelpechAnne De PaepeXavier EstivillMats HanssonKatia KaralisAndres Metspalu et al.

Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood

M KlaassensE ReinsteinY Hilhorst-HofsteeJJP SchranderFransiska MalfaitH StaalLC ten HaveJ BlaauwHCJ RoggeveenD Krakow et al.

A1 Journal Article in CLINICAL GENETICS

Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid

Anne De PaepeBert CallewaertLaurence CampensPaul CouckeFransiska MalfaitMarjolijn RenardOlivier VanakkerJulie De BackerLAURENT DEMULIERKatrien Francois et al.

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

Kim De LeeneerMieke Van BockstalSara De BrouwerNATALIA SWIETEKPeter SchietecatteN SabbaghianJ Van den EndeS WillocxK StormB Blaumeiser et al.

A1 Journal Article in BREAST CANCER RESEARCH AND TREATMENT

Funding opportunities include PhD and postdoctoral fellowships and research grants for senior clinical investigators in Belgium

Jennifer TaylorOlivier GheysensAnne De PaepePaul HerijgersJohan De SutterBert CallewaertDavy Vanhoutte

Editorial material

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

Andy WillaertSandeep KhatriBert CallewaertPaul CouckeSeth CrosbyJoseph LeeElaine DavisSruti ShivaMichael TsangAnne De Paepe et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Generalized hypermobility, hypermobility syndrome and Ehlers-Danlos hypermobility type in adults: a review of literature and perspectives for treatment

Birgit Juul-KristensenLies RombautLars RemvigE RameckersJeanine VerbuntRaoul Engelbert

Generation and use of novel ROSA26-based ESC/iPSC technologies to study cellular reprogramming and gene function during lineage-directed differentiation

Lieven HaenebalckeJody HaighAnne De Paepe

Het Ehlers-Danlossyndroom, een aandoening met vele gezichten

Fransiska MalfaitAnne De Paepe

A4 Journal Article in PERCENTIEL (NEDERLANDSE ED.)

Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues

Mohammad Jakir HosenAnouck LamoenAnne De PaepeOlivier Vanakker

A2 Journal Article in SCIENTIFICA (HINDAWI)

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Annelies FieuwCandy KumpsAlexander SchrammFilip PattynBjörn MentenFrancesca AntonacciPeter SudmantJohannes H SchulteNadine Van RoySarah Vergult et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Impact of Ehlers Danlos Syndrom-Hypermobile Type on lower limb function

Joris De SchepperSabine VerscheldeFransiska MalfaitAnne De PaepePatrick CaldersLies Rombaut

Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersAnne De PaepeJulie De Backer

Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum

Laurence CampensOlivier VanakkerBram TrachetPatrick SegersAnne De PaepeJulie De Backer

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Virgini CarmignacJulien ThevenonLesly AdèsBert CallewaertSophie JuliaChristel Thauvin-RobinetLucie GueneauJean-Benoit CourcetEstelle LopezKatherine Holman et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Instability and functional impairment in patients with the hypermobility type of Ehlers-Danlos Syndrome: evaluation of underlying neuromuscular determinants, disease impact, and current treatment

Lies RombautPatrick CaldersAnne De Paepe

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers Danlos syndrome

Lies RombautFransiska MalfaitInge De WandeleYouri TaesYouri ThijsAnne De PaepePatrick Calders

A1 Journal Article in ARTHRITIS CARE & RESEARCH

Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos Syndrome

Lies RombautFransiska MalfaitInge De WandeleNele MahieuYouri ThijsPatrick SegersAnne De PaepePatrick Calders

A1 Journal Article in ARTHRITIS CARE AND RESEARCH

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome

Ingrid MBH van de LaarDenise van der LindeEdwin HG OeiPieter K BosJohannes H BessemsSita M Bierma-ZeinstraBelle L van MeerGerard PalsRogier A OldenburgJos A Bekkers et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing

Kim De LeeneerIlse CoeneBrecht CrombezJustine SimkensRudy Van den BroeckeAlain BolsBarbara StragierIlse VanhoutteAnne De PaepeBruce Poppe et al.

A1 Journal Article in BREAST CANCER RESEARCH AND TREATMENT

Study of the role of type V collagen in heritable connective tissue diseases

Sofie SymoensAnne De PaepePaul Coucke

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

K de LeeuwJF GoorhuisIFJ TielliuSofie SymoensFransiska MalfaitAnne De PaepeJP van TintelenJBF Hulscher

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Symmetry of footalignment and ankle flexibility in female patients with Ehlers Danlos Syndrome-Hypermobile Type

Joris De SchepperSabine VerscheldeFransiska MalfaitAnne De PaepeLies RombautPatrick Calders

The Ehlers-Danlos syndrome, a disorder with many faces

Anne De PaepeFransiska Malfait

A1 Journal Article in CLINICAL GENETICS

The Ghent Marfan trial: a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers

Katarina MöbergSylvia De NobeleDaniel DevosEls GoetghebeurPatrick SegersBram TrachetChris VervaetMarjolijn RenardPaul CouckeBart Loeys et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

The new Ghent criteria for Marfan syndrome: what do they change ?

L FaivreG Collod-BeroudL AdèsE ArbustiniA ChildBert CallewaertBart LoeysC BinquetE GautierK Mayer et al.

A1 Journal Article in CLINICAL GENETICS

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

2011

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe Kyphoscoliosis and eye involvement

Sofie SymoensFransiska MalfaitPhilip VlummensTrinh Hermanns-LeDelfien SyxAnne De Paepe

A1 Journal Article in PLOS ONE

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Machteld BaetensLut Van LaerKim De LeeneerJan HellemansJoachim De SchrijverHendrik Van de VoordeMarjolijn RenardHal DietzRonald V LacroBjörn Menten et al.

A1 Journal Article in HUMAN MUTATION

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?

Olivier VanakkerBart LeroyLeon J SchurgersCees VermeerPaul CouckeAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Balance and gait and risk of falling in females with the Ehlers-Danlos syndrome

Lies RombautFransiska MalfaitInge De WandeleAnne De PaepePatrick Calders

Balance, gait, falls and fear of falling in women with the hypermobility type of ehlers-danlos syndrome.

Lies RombautFransiska MalfaitInge De WandeleYouri ThijsTanneke PalmansAnne De PaepePatrick Calders

A1 Journal Article in ARTHRITIS CARE & RESEARCH

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Mine Arslan-KirchnerJoerg T EpplenLaurence FaivreGuillaume JondeauJoerg SchmidtkeAnne De PaepeBart Loeys

Editorial material

De genetische raadpleging: waarom doorverwijzen ?

Fransiska MalfaitAnne De Paepe

EFEMP2-related cutis laxa

Bart LoeysAnne De PaepeZsolt Urban

Bookchapter in GeneReviews®

EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells

An De WeerJoni Van der MeulenPieter RondouTom TaghonTorsten A KonradKatleen De PreterPieter MestdaghTom Van MaerkenNadine Van RoyMarta Jeison et al.

A1 Journal Article in BRITISH JOURNAL OF HAEMATOLOGY

Ehlers-Danlos syndrome, classic type

Fransiska MalfaitRichard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Evaluation of RAD51C as a new breast cancer suceptibility gene in Belgian/Dutch population

Kim De LeeneerM Van BockstaelNATALIA SWIETEKJ Van den EndeK StormB BlaumeiserK LeunensCJ van AsperenJT WijnenE Legius et al.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Barbara D'haeneFrançoise MeireIlse ClaerhoutHester Y KroesAstrid PlompYvonne H ArensThomy de RavelIngele CasteelsSarah De JaegereSally Hooghe et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY

Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist Nutlin-3

Tom Van MaerkenAli RihaniDaniel DreidaxSarah De ClercqNurten YigitJean-Christophe MarineFrank WestermannAnne De PaepeJo VandesompeleFranki Speleman

A1 Journal Article in MOLECULAR CANCER THERAPEUTICS

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage

Olivier VanakkerKris De CoenLaura CostropPaul CouckePiet VanhaesebrouckAnne De Paepe

A1 Journal Article in JOURNAL OF PEDIATRICS

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah VergultKaren BuysseBarbara Delle ChiaeieSandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis

Olivier VanakkerDimitri HemelsoetAnne De Paepe

A2 Journal Article in STROKE RESEARCH AND TREATMENT

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

Sofie SymoensMarjolijn RenardChristelle Bonod-BidaudDelfien SyxElisabeth VaganayFransiska MalfaitSylvie Ricard-BlumEfrat KesslerLut Van LaerPaul Coucke et al.

A1 Journal Article in BIOCHEMICAL JOURNAL

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis

Lies RombautFransiska MalfaitAnne De PaepeSTEVEN RIMBAUTAugust VerbruggenInge De WandelePatrick Calders

A1 Journal Article in ARTHRITIS AND RHEUMATISM

Klinische en genetische aspecten van het syndroom van Turner

Barbara Delle ChiaeieBjörn MentenAnne De PaepeJean De SchepperSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Left ventricular dysfunction in a mouse model of Marfan syndrome

Laurence CampensMarjolijn RenardBram TrachetPatrick SegersAnne De PaepeJulie De Backer

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

Kim De LeeneerJan HellemansJoachim De SchrijverMachteld BaetensBruce PoppeWim Van CriekingeAnne De PaepePaul CouckeKathleen Claes

A1 Journal Article in HUMAN MUTATION

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

Lies RombautFransiska MalfaitInge De WandeleAnn CoolsYouri ThijsAnne De PaepePatrick Calders

A1 Journal Article in ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION

Muscle mass, muscle strength, and functional impairment in women with the Ehlers-Danlos syndrome

Lies RombautFransiska MalfaitInge De WandeleStefan GoemaereAnne De PaepePatrick Calders

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Brian P KelleyFransiska MalfaitLuisa BonafeDustin BaldridgeErica HomanSofie SymoensAndy WillaertNursel ElciogluLionel Van MaldergemChristine Verellen-Dumoulin et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

Bert CallewaertMarjolijn RenardVishwanathan HucthagowderBeate AlbrechtIngrid HausserEdward BlairCristina DiasAlice AlbinoHiroshi WachiFumiaki Sato et al.

A1 Journal Article in HUMAN MUTATION

Oorzaken en behandeling van aortadilatatie bij het bicuspide-aortaklepsyndroom

Jeff De LooseLAURENT DEMULIERKatrien FrancoisLaurence CampensBart LoeysAnne De PaepeJulie De Backer

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena GentileLuca SangiorgiPatrizia D'EufemiaTon GarretsenCor Cremers et al.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena V GentileLuca SangiorgiPatrizia D'EufemiaMauro CelliTon JTM Garretsen et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Patienten-spezifisches Modell der Wandschubspannung von Aortenbogen

Bram TrachetDaniel DevosJulie De BackerAnne De PaepeBart LoeysPatrick Segers

A4 Journal Article in COMPUTER AIDED MEDICAL ENGINEERING

Pharmacological activation of p53 and gene therapy as emerging treatment options for neuroblastoma

Tom Van MaerkenAli RihaniAnne De PaepeJo VandesompeleFranki Speleman

A2 Journal Article in BELGIAN JOURNAL OF MEDICAL ONCOLOGY

Presence and impact of autonomic symptoms in patients with Ehlers-Danlos syndrome

Inge De WandeleLies RombautFransiska MalfaitAnne De PaepePatrick Calders

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year

Chantal StheneurLaurence FaivreGwenaelle Collod-BeroudElodie GautierChristine BinquetClaira-e Bonithon-KoppMireille ClaustresAnne H ChildEloisa ArbustiniLesley C Ades et al.

A1 Journal Article in PEDIATRIC RESEARCH

Reply to the letter to the editor by Marc Williams

Fransiska MalfaitRichard J WenstrupAnne De Paepe

A1 Journal Article in GENETICS IN MEDICINE

Selectieve inhibitie van de p53–MDM2 interactie door nutlin-3 als een nieuwe therapeutische strategie voor neuroblastoom

Tom Van MaerkenAli RihaniAnne De PaepeJo VandesompeleFranki Speleman

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

Kathleen ClaesKarin DahanS TejparAnne De PaepeMaryse BonduelleMarc AbramowiczChristine VerellenDenis FranchimontEric Van CutsemAlex Kartheuser

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

The lymphatic vasculature determines the extent and localization of ectopic calcification in pseudoxanthoma elasticum

Y Le CorreL MartinC BramptonO BolltM DeanT VeenstraAnne De PaepeO Le Saux

The microRNA body map : dissecting microRNA function through integrative genomics

Pieter MestdaghSteve LefeverFilip PattynDana RidzonErik FredlundAnnelies FieuwMaté OngenaertJoëlle VermeulenAnne De PaepeLinda Wong et al.

A1 Journal Article in NUCLEIC ACIDS RESEARCH

The relationship between genetic testing, psychological well-being and surveillance behavior: a questionnaire study in presymptomatic female and male BRCA carriers and non-carriers

Katrien VerhoevenPhilippe De WildeBruce PoppeAnne De PaepeGeert Crombez

A1 Journal Article in PSYCHOLOGIE & GEZONDHEID

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Christopher BramptonYukiko YamaguchiOlivier VanakkerLut Van LaerLi-Hsieh ChenManoj ThakoreAnne De PaepeViola PomoziPal T SzaboLudovic Martin et al.

A1 Journal Article in CELL CYCLE

2010

A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation

E TugBart LoeysAnne De PaepeH AydinK Gideroglu

A1 Journal Article in GENETIC COUNSELING

Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum

Julie De ZaeytijdOlivier VanakkerPaul CouckeAnne De PaepeJean DelaeyBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Marjolijn RenardTammy HolmRegan VeithBert CallewaertLesley C AdèsOsman BaspinarAngela PickartMajed DasoukiJuliane HoyerAnita Rauch et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Bleeding in collagen disorders: the example of the Ehlers-Danlos syndromes

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Delphine DetaintLaurence FaivreGwenaelle Collod-BeroudAnne H ChildBart LoeysChristine BinquetElodie GautierEloisa ArbustiniKarin MayerMine Arslan-Kirchner et al.

A1 Journal Article in EUROPEAN HEART JOURNAL

Clinical and genetic aspects of ehlers-Danlos syndrome, classic type

Fransiska MalfaitRichard J WenstrupAnne De Paepe

A1 Journal Article in GENETICS IN MEDICINE

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Mine Arslan-KirchnerEloisa ArbustiniCatherine BoileauAnne ChildGwenaelle Collod-BeroudAnne De PaepeJörg EpplenGuillaume JondeauBart LoeysLaurence Faivre

Editorial material

Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers-Danlos Syndrome

AL MoscaP CallierA Masurel-PauletC Thauvin-RobinetN MarleM NouchyF HuetD DipandaAnne De PaepePaul Coucke et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld

Frauke CoppietersCaroline Van CauwenberghBarbara D'haeneSteve LefeverAnne De PaepeBart LeroyElfride De Baere

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

Kim-Thanh OngJerome PerduJulie De BackerErwan BozecPatrick CollignonJoseph EmmerichAnne-Laure FauretJean Noel FiessingerDominique P GermainGabriella Georgesco et al.

A1 Journal Article in LANCET

Ehlers-Danlos syndrome, classic type

Richard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Barbara D'haeneJ NevadoM PugeatG PierquinRB LowryW ReardonA DelicadoS García-MiñaurM PalomaresW Courtens et al.

A1 Journal Article in HUMAN MUTATION

Health status and impact of pain : a comparative study between female patients with the Ehlers-Danlos syndrome, fibromyalgia and rheumatoid arthritis

Lies RombautFransiska MalfaitSTEVEN RIMBAUTBert Vander CruyssenAnne De PaepePatrick Calders

Health status and impact of pain: a comparative study between patients with Ehlers-Danlos syndrome, fibromyalgia, and rheumatoid arthritis

Lies RombautFransiska MalfaitSTEVEN RIMBAUTAnne De PaepePatrick Calders

Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's

Julie De BackerMarjolijn RenardPaul CouckeLut Van LaerAnne De PaepeBart Loeys

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

An De WeerBruce PoppeSarah VergultPieter Van VlierbergheMarjan PetrickRobrecht De BockYves BenoitLucien NoensAnne De PaepeNadine Van Roy et al.

A1 Journal Article in PLOS ONE

Impaired balance and gait and increased risk of falling in females with the Ehlers-Danlos syndrome

Lies RombautFransiska MalfaitAnne De PaepeInge De WandelePatrick Calders

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haeneJan HellemansMargarita CraenJean De SchepperK DevriendtJP FrynsK KeymolenEveline DebalsA de KleinEM de Jong et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Inherited elastinopathies: novel clinical and etiopathogenetic insights

Bert CallewaertAnne De PaepeBart Loeys

Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type)

Lies RombautAnne De PaepeFransiska MalfaitAnn CoolsPatrick Calders

A1 Journal Article in CLINICAL RHEUMATOLOGY

Kanker en erfelijkheid : van moleculaire diagnostiek tot psychologische begeleiding

Philippe De WildeKathleen ClaesKim De LeeneerBruce PoppeAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

Olivier VanakkerLudovic MartinLeon J SchurgersDaniela QuaglinoLaura CostropCees VermeerIvonne Pasquali-RonchettiPaul CouckeAnne De Paepe

A1 Journal Article in LABORATORY INVESTIGATION

Medische genetica in de klinische praktijk

Editorial material

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

Sara De BrouwerKatleen De PreterCandy KumpsPiotr ZabrockiMichael PorcuEllen M WesterhoutArjan LakemanJo VandesompeleJasmien HoebeeckTom Van Maerken et al.

A1 Journal Article in CLINICAL CANCER RESEARCH

Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Fransiska MalfaitDelfien SyxPhilip VlummensSofie SymoensSheela NampoothiriTrinh Hermanns-LeLut Van LaerAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type

Lies RombautFransiska MalfaitAnn CoolsAnne De PaepePatrick Calders

A1 Journal Article in DISABILITY AND REHABILITATION

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

Bart LoeysEE GerberD Riegert-JohnsonS IqbalP WhitemanV McConnellCR ChillakuriD MacayaPaul CouckeAnne De Paepe et al.

A1 Journal Article in SCIENCE TRANSLATIONAL MEDICINE

Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde

Jan HellemansSofie BekaertJo VandesompelePaul CouckeAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Laura CostropOlivier VanakkerLut Van LaerOlivier Le SauxL MartinN ChassaingD GuerraI Pasquali-RonchettiPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF HUMAN GENETICS

Preconceptueel en prenataal genetisch advies

Barbara Delle ChiaeieBjörn MentenAnne De PaepeSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Presence and impact of autonomic symptoms in patients with the hypermobility type of Ehlers-Danlos syndrome

Inge De WandeleFransiska MalfaitAnne De PaepePatrick CaldersLies Rombaut

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

Elke VerstraetenSofie SymoensMarjolijn RenardBert CallewaertK VandekerckhoveJulie De BackerFransiska MalfaitL MarksPaul CouckeAnne De Paepe et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien HoornaertInge VereeckeChantal DewinterThomas RosenbergFrits A BeemerJuliaan LeroyLaila BendixErik BjörckMaryse BonduelleOdile Boute et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

Delfien SyxFransiska MalfaitLut Van LaerJan HellemansT Hermanns-LeAndy WillaertA BenmansourAnne De PaepeA Verloes

A1 Journal Article in HUMAN GENETICS

The heritable disorders of connective tissue: epidemiology, nosology and clinical features

Alan J HakimFransiska MalfaitAnne De Paepe

Bookchapter in Hypermobility, fibromyalgia and chronic pain

The miRNA body map: dissecting miRNA function through integrative genomics

Pieter MestdaghSteve LefeverFilip PattynDana RidzonErik FredlundAnnelies FieuwJoëlle VermeulenAnne De PaepeLinda WongFranki Speleman et al.

The revised Ghent nosology for the Marfan syndrome

Bart LoeysHarry C DietzAlan C BravermanBert CallewaertJulie De BackerRichard B DevereuxYvonne Hilhorst-HofsteeGuillaume JondeauLaurence FaivreDianna M Milewicz et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The study of long-range genetic defects in human transcription factor related disorders

Barbara D'haeneAnne De PaepeElfride De Baere

Toepassing van microarray-analyse in de genetische diagnostiek

Björn MentenKaren BuysseGeert MortierAnne De PaepeFranki Speleman

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Vascular haemostasis

NS KeyAnne De PaepeFransiska MalfaitCL Shovlin

A1 Journal Article in HAEMOPHILIA

methGraph: A genome visualization tool for PCR-based methylation assays

Steve LefeverJasmien HoebeeckFilip PattynGábor TusnádyAnne De PaepeFranki SpelemanTamás ArányiJo Vandesompele

A1 Journal Article in EPIGENETICS

2009

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability

A JamsheerC HenggelerJ WierzbaBart LoeysAnne De PaepeC StheneurN BadziagK MatuszewskaG MatyasA Latos-Bielenska

A1 Journal Article in JOURNAL OF APPLIED GENETICS

Aberrant methylation of candidate tumor suppressor genes in neuroblastoma

Jasmien HoebeeckEvi MichelsFilip PattynValerie CombaretJoelle VermeulenNurten YigitClaire HoyouxGenevieve LaureysAnne De PaepeFranki Speleman et al.

A1 Journal Article in CANCER LETTERS

Anomalies leading to the mineralization of elastic fibers in pseudoxanthoma elasticum and the PXE-like syndrome

Y Le CorreL MartinOlivier VanakkerL SchurgersD GheduzziC VermeerI Pasquali-RonchettiPaul CouckeAnne De Paepe

Antitumor Activity of the Selective MDM2 Antagonist Nutlin-3 Against Chemoresistant Neuroblastoma With Wild-Type p53

Tom Van MaerkenLiesbeth FerdinandeJasmien TaildemanIrina LambertzNurten YigitLiesbeth VercruysseAli RihaniMartin MichaelisJindrich CinatlClaude Cuvelier et al.

A1 Journal Article in JOURNAL OF THE NATIONAL CANCER INSTITUTE

Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment

Fransiska MalfaitAnne De Paepe

A1 Journal Article in BLOOD REVIEWS

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Sofie SymoensFransiska MalfaitMarjolijn RenardJosette AndréIngrid HausserBart LoeysPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen BuysseBarbara Delle ChiaeieRudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles

Jasmien HoebeeckBram De WildeEvi MichelsValerie CombaretNurten YigitEls De SmetNadine Van RoyEric StanbridgeNing RuGenevieve Laureys et al.

A1 Journal Article in CANCER INVESTIGATION

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Laurence FaivreAlice Masurel-PauletGwenaëlle Collod-BéroudBert CallewaertAnne H ChildChantal StheneurChristine BinquetElodie GautierBertrand ChevallierFrédéric Huet et al.

A1 Journal Article in PEDIATRICS

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Laurence FaivreG Collod-BeroudBert CallewaertA ChildC BinquetE GautierBart LoeysE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in European Journal of Human Genetics

Comparison of miRNA profiles of microdissected Hodgkin/Reed-Sternberg cells and Hodgkin cell lines versus CD77+ B-cells reveals a distinct subset of differentially expressed miRNAs

Pieter Van VlierbergheAn De WeerPieter MestdaghTom FeysKatleen De PreterAnne De PaepeKathleen LambeinJo VandesompeleNadine Van RoyBruno Verhasselt et al.

A1 Journal Article in BRITISH JOURNAL OF HAEMATOLOGY

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Bert CallewaertBart LoeysAnna FiccadentiSascha VermeerMagnus LandgrenHester Y KroesYuval YaronMichael PopeNicola FouldsOdile Boute et al.

A1 Journal Article in HUMAN MUTATION

Connective Tissue Disorders

Julie De BackerAnne De PaepeBart LoeysHarry Dietz

Bookchapter in Echocardiography in Pediatric and Congenital Heart Disease

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D'haeneC AttanasioDiane BeysenJ DostieE LemireP BouchardM FieldK JonesB LorenzBjörn Menten et al.

A1 Journal Article in PLOS GENETICS

Downregulation of miR-449a is essential for the survival of EVI1 positive leukemic cells through modulation of NOTCH1 and BCL2

An De WeerPieter MestdaghKatleen De PreterJoni Van der MeulenPieter Van VlierbergheTom Van MaerkenNadine Van RoyMarta JeisonIsaac YanivBarbara Cauwelier et al.

Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome

KT OngJ PerduH PlauchuJulie De BackerAnne De PaepeJ EmmerichX JeunemaitreD GermainP CollignonG Georgesco et al.

Escape from p53-mediated tumor surveillance in neuroblastoma: switching off the p14(ARF)-MDM2-p53 axis

Tom Van MaerkenJo VandesompeleAli RihaniAnne De PaepeFranki Speleman

A1 Journal Article in Cell Death & Differentiation

FOXL2 Mutations and Genomic Rearrangements in BPES

Diane BeysenAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MUTATION

Gebruik van genexpresieanalyse in de aanpak van neuroblastoom bij kinderen

Joëlle VermeulenKatleen De PreterPieter MestdaghFilip PattynAnne De PaepeNadine Van RoyGenevieve LaureysFranki SpelemanJo Vandesompele

A4 Journal Article in ONCO (NEDERLANDSE ED.)

Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes A Supplement to HRMCA Mutation Scanning, Allowing the Strong Reduction of Sequencing Burden

Kim De LeeneerIlse CoeneBruce PoppeAnne De PaepeKathleen Claes

A1 Journal Article in JOURNAL OF MOLECULAR DIAGNOSTICS

Gentherapie anno 2009: realiteit of fictie ?

Gentherapie boekt voorzichtig vooruitgang

Joint position sense and vibratory perception sense in patients with the Ehlers-Danlos syndrome hypermobility type

Lies RombautAnne De PaepeFransiska MalfaitAnn CoolsPatrick Calders

Kanker en erfelijkheid: ondersteuning en begeleiding op maat van de patiënten en hun families. Een project van het Centrum voor Medische Genetica van het Universitair Ziekenhuis Gent

Annemie T'SeyenAnne De Paepe

Klinische genetica, cytogenetica en moleculaire genetica

Elfride De BaereJuliaan LeroyAnne De Paepe

Bookchapter in Codex medicus

MICRORNA SIGNATURES IN GENETIC SUBTYPES OF T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

Joni Van der MeulenPieter Van VlierberghePieter MestdaghJo VandesompeleBruce PoppeNadine Van RoyTom TaghonJean PlumB. CauwelierDLD Selleslag et al.

MODULATION OF MIR-449A EXPRESSION DECREASES CELL VIABILITY, INCREASES APOPTOSIS AND INDUCES DIFFERENTIATION IN EVI1 DEREGULATED LEUKEMIA CELLS

An De WeerBruce PoppePieter MestdaghKatleen De PreterPieter Van VlierbergheNadine Van RoyM JeisonB CauwelierBruno VerhasseltJan Philippé et al.

Marfan and Marfan-like syndromes

Julie De BackerBart LoeysAnne De Paepe

A2 Journal Article in Artery Research

Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion

L FaivreG Collod-BeroudBert CallewaertA ChildBart LoeysC BinquetE GautierE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in American Journal of Medical Genetics Part A

Patient-specific modeling of aortic arch oscillatory shear index patterns in patients with Marfan syndrome

Bram TrachetDaniel DevosJulie De BackerAnne De PaepeBart LoeysPatrick Segers

Patient-specific modelling of aortic arch wall shear stress patterns in patients with Marfan syndrome

Bram TrachetDaniel DevosJulie De BackerAnne De PaepeBart LoeysPatrick Segers

RNA pre-amplification enables large-scale RT-qPCR gene-expression studies on limiting sample amounts

Joëlle VermeulenStefaan DerveauxSteve LefeverEls De SmetKatleen De PreterNurten YigitAnne De PaepeFilip PattynFranki SpelemanJo Vandesompele

A2 Journal Article in BMC RESEARCH NOTES

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Andy WillaertFransiska MalfaitSofie SymoensKris GevaertH. KayseriliA. MegarbaneGeert MortierJ. G. LeroyPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The Ehlers-Danlos syndrome

Fransiska MalfaitAnne De Paepe

Bookchapter in A clinician's pearls and myths in rheumatology

The influence of aortic dimensions on calculated wall shear stress in the mouse aortic arch

Bram TrachetAbigaïl SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

A1 Journal Article in COMPUTER METHODS IN BIOMECHANICS AND BIOMEDICAL ENGINEERING

Using real-time qPCR to evaluate RNAi-mediated gene silencing

Tom Van MaerkenPieter MestdaghS De ClercqFilip PattynNurten YigitAnne De PaepeJ C MarineFranki SpelemanJo Vandesompele

A2 Journal Article in BioTechniques Protocol Guide

2008

A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta

Andy WillaertSofie SymoensFransiska MalfaitKris GevaertPaul CouckeAnne De Paepe

A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3

Andy WillaertInge Van PottelberghHans-Georg ZmierczakStefan GoemaereJean KaufmanAnne De PaepePaul Coucke

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta

Fransiska MalfaitAndy WillaertSofie SymoensPaul CouckeAnne De Paepe

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

Bert CallewaertBart LoeysChristophe CasteleynAndy WillaertPieter DewintJulie De BackerR SedlmeierPaul SimoensAnne De PaepePaul Coucke

A1 Journal Article in GENESIS

Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families

Bert CallewaertAndy WillaertWS KERSTJENS-FREDERIKSEJulie De BackerK DEVRIENDTB ALBRECHTMA RAMOS-ARROYOM DOCO-FENZYRCM HENNEKAMRE PYERITZ et al.

A1 Journal Article in HUMAN MUTATION

Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta

Freya SwinnenEls De LeenheerStefan GoemaereAnne De PaepeC CREMERSPaul CouckeIngeborg Dhooge

CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23

Evi MichelsJasmien HoebeeckKatleen De PreterAlexander SchrammBénédicte BrichardAnne De PaepeAngelika EggertGenevieve LaureysJo VandesompeleFranki Speleman

A1 Journal Article in BMC CANCER

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

L FaivreG Collod-BeroudA ChildBert CallewaertBart LoeysC BinquetE GautierE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Discovery of genes in thoracic aortic aneurysms

Paul CouckeBart LoeysBert CallewaertAnne De Paepe

Bookchapter in Aortic aneurysms : new insights into an old problem

EVI1 overexpression in t(3;17) positive myeloid malignancies results from juxtaposition of EVI1 to the MSI2 locus at 17q22

An De WeerFranki SpelemanBarbara CauwelierNadine Van RoyNurten YigitBruno VerhasseltBarbara De MoerlooseYves BenoitLucien NoensDominik Selleslag et al.

A1 Journal Article in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL

Ehlers-Danios syndromes and Marfan syndrome

Bert CallewaertFransiska MalfaitBart LoeysAnne De Paepe

A1 Journal Article in BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Ehlers-Danlos syndrome, classic type

Richard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Erfelijke bindweefselziekten ontrafelen, is zoeken naar een speld in een hooiberg

Bookchapter in Kennismakers, 80 jaar FWO

Expression profiling of a new class of non-coding RNAs in human neuroblastoma

Pieter MestdaghFilip PattynKatleen De PreterJoëlle VermeulenAnne De PaepeFranki SpelemanJo Vandesompele

Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten

Bert CallewaertAnne De Paepe

A1 Journal Article in MEDIZINISCHE GENETIK

Gentse genetici ontvangen Prijs Gert Noël: testaanvrager erfelijke kanker op maat ondersteund

Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics

Jo VandesompeleEvi MichelsKatleen De PreterBjörn MentenAlexander SchrammAngelika EggertPeter F AmbrosValérie CombaretNadine FrancotteFrancesca Antonacci et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome

Diane BeysenSarah De JaegereDavid AmorPhilippe BouchardSophie Christin-MaitreMarc FellousPhilippe TouraineArthur W GrixRaoul HennekamFrançoise Meire et al.

A1 Journal Article in HUMAN MUTATION

MICRORNA PROFILING OF EVI1 DEREGULATED MYELOID LEUKEMIA

An De WeerBruce PoppePieter MestdaghPieter Van VlierbergheNadine Van RoyAnne De PaepeBruno VerhasseltJo VandesompeleFranki Speleman

MYCN regulates oncogenic and tumour suppressor miRNA networks in neuroblastoma

Pieter MestdaghJoëlle VermeulenFilip PattynLiesbeth VercruysseAnne De PaepeGenevieve LaureysFranki SpelemanJo Vandesompele

Methusalemfonds: top in bindweefselziekten: geld voor weesjes

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

Diane BeysenLara MoumneReiner VeitiaHartmut PetersBart LeroyAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MOLECULAR GENETICS

New insights in the pathogenesis of aortic aneurysms

Bart LoeysAnne De Paepe

A4 Journal Article in VERHANDELINGEN VAN DE KONINKLIJKE ACADEMIE VOOR GENEESKUNDE VAN BELGIË

Niet tevreden, embryo gedumpt: Nieuwe genetische test screent embryo op alle mogelijke ziektes

Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Olivier VanakkerBart LeroyPaul CouckeLionel G BercovitchJouni UittoDennis ViljoenSharon F TerryPetra Van AckerDirk MatthysBart Loeys et al.

A2 Journal Article in HUMAN MUTATION

Osteogenesis Imperfecta: klinische en genetische aspecten van de broze botziekte

Olivier VanakkerFransiska MalfaitAnne De Paepe

A4 Journal Article in NEDERLANDS TIJDSCHRIFT VOOR CALCIUM- EN BOTSTOFWISSELING

Pseudoxanthoma elasticum: een metabole bindweefselaandoening

Olivier VanakkerAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms

Kim De LeeneerIlse CoeneBruce PoppeAnne De PaepeKathleen Claes

A1 Journal Article in CLINICAL CHEMISTRY

Real-time qPCR as a tool for evaluating RNAi-mediated gene silencing

Tom Van MaerkenPieter MestdaghSarah De ClercqFilip PattynNurten YigitAnne De PaepeJean-Christophe MarineFranki SpelemanJo Vandesompele

A2 Journal Article in Bioradiations

The influence of aortic root diameter on wall shear stress in the mouse aortic arch

Bram TrachetAbigaïl SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population

W TERRYNBruce PoppeB WUYTSKathleen ClaesB MAESD VERBEELENRaymond VanholderK DE BOECKNorbert LameireAnne De Paepe et al.

A1 Journal Article in NEPHROLOGY DIALYSIS TRANSPLANTATION

Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients

Gert De SchoenmakereBruce PoppeBirgitte WuytsKathleen ClaesDavid CassimanBart MaesDierik VerbeelenRaymond VanholderDirk R. KuypersNorbert Lameire et al.

A1 Journal Article in NEPHROLOGY DIALYSIS TRANSPLANTATION

Unmasking of epigenetically silenced microRNAs in neuroblastoma

Jasmien HoebeeckGeert DeclerckPieter MestdaghFilip PattynKatleen De PreterJoëlle VermeulenNurten YigitAnne De PaepeFranki SpelemanJo Vandesompele

Wall shear stress in the mouse aortic arch: does size matter?

Bram TrachetAbigaïl SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

Wall shear stress: a key determinant in normal arterial growth?

Bram TrachetAbigaïl SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

2007

A detailed inventory of DNA copy number alterations in four commonly used Hodgkin lymphoma cell lines

Tom FeysBruce PoppeKatleen De PreterNadine Van RoyBruno VerhasseltPascale De PaepeAnne De PaepeFranki Speleman

A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines

Tom FeysBruce PoppeKatleen De PreterNadine Van RoyBruno VerhasseltPascale De PaepeAnne De PaepeFranki Speleman

A1 Journal Article in HAEMATOLOGICA

Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders

Peter De CosterMaria CornelissenAnne De PaepeLuc MartensAnne Vral

A1 Journal Article in ARCHIVES OF ORAL BIOLOGY

Acquired chromosomal rearrangements targeting selected transcription factors: contribution of molecular cytogenetic and expression analyses to the identification of clinically and biologically relevant subgroups in hematological malignancies

Bruce PoppeAnne De PaepeFranki Speleman

A4 Journal Article in VERHANDELINGEN VAN DE KONINKLIJKE ACADEMIE VOOR GENEESKUNDE VAN BELGIË

Array CGH analysis of subnanogram quantities of DNA using whole genome amplification: opportunities for detection of copy number alterations in Hodgkin's lymphoma

Tom FeysBart PoppeBruno VerhasseltPascale De PaepeBjörn MentenJo VandesompeleNadine Van RoyAnne De PaepeFranki Speleman

ArrayCGH based classification of neuroblastoma into genomic subgroups

Sara De BrouwerEvi MichelsJo VandesompeleKatleen De PreterJasmien HoebeeckJoëlle VermeulenAlexander SchrammJan J MolenaarBjörn MentenBarbara Marques et al.

ArrayCGH-based classification of neuroblastoma into genomic subgroups

Evi MichelsJo VandesompeleKatleen De PreterJasmien HoebeeckJoëlle VermeulenAlexander SchrammJan J MolenaarBjörn MentenBarbara MarquesRaymond L Stallings et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Arteriële tortuositeit door fout in glucosetransporter

Anne De PaepePaul CouckeBart Loeys

A4 Journal Article in Agenda voor de Cardiologie

Borstkanker en erfelijkheid

Bruce PoppePhilippe De WildeAnne De Paepe

Bookchapter in Mijn borst : alles over borstchirurgie

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCR β-HOXA rearrangement : a study of the Groupe Francophone de Cytogénétique Hématologique

Barbara CauwelierH CavéC GervaisM LessardC BarinC PerotJ Van den AkkerF MugneretC CharrinMP Pagès et al.

A1 Journal Article in LEUKEMIA

Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

JC MARINIA FORLINOWA CABRALAM BARNESJD SAN ANTONIOS MILGROMJC HYLANDJ KORKKODJ PROCKOPAnne De Paepe et al.

A1 Journal Article in HUMAN MUTATION

De bijdrage van M-FISH aan de moleculaire diagnostiek in de hemato-oncologie

Bruce PoppeNadine Van RoyNurten YigitAnne De PaepeFranki Speleman

A2 Journal Article in Ned Tijdschr Hematol

Een Belgische patiënt met Arterial Tortuosity Syndrome

Bert CallewaertBart LoeysJulie De BackerAndy WillaertD DevosM GewilligPaul CouckeK DevriendtAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

L FaivreG Collod-BeroudBart LoeysA ChildC BinquetE GautierBert CallewaertE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Ehlers-Danlos syndrome, classic type

Richard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Genome wide promoter methylation analysis in neuroblastoma with perspectives for integrated molecular profiling

Jasmien HoebeeckMaté OngenaertEvi MichelsKatleen De PreterJoëlle VermeulenNurten YigitAnne De PaepeWim Van CriekingeFranki SpelemanJo Vandesompele

High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors

Jasmien HoebeeckEvi MichelsBjörn MentenNadine Van RoyAngelika EggertAlexander SchrammKatleen De PreterNurten YigitEls De SmetAnne De Paepe et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Integrative genomics in neuroblastoma research

Franki SpelemanKatleen De PreterEvi MichelsJasmien HoebeeckFilip PattynJoëlle VermeulenNadine Van RoyAnne De PaepeGenevieve LaureysJo Vandesompele

Medisch onderzoek aanmoedigen

A4 Journal Article in Blikveld

MicroRNA profiling of EVI1 deregulated myeloid leukemia

An De WeerBruce PoppePieter MestdaghNadine Van RoyAnne De PaepeBruno VerhasseltJo VandesompeleFranki Speleman

Mutation detection in the ABCC6 gene and analysis in a large international cohort affected by pseudoxanthoma elasticum

EG PfendnerSF TerryS VourthisP McAndrewMR McClainS FrattaA MaraisS HaririPaul CouckeOlivier Vanakker et al.

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G PfendnerOlivier VanakkerSharon F TerrySophia VourthisPatricia E McAndrewMonica R McClainSarah FrattaAnna-Susan MaraisSusan HaririPaul Coucke et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

New insights in the molecular pathogenesis of the blepharophimosis syndrome (BPES)

Diane BeysenAnne De PaepeElfride De Baere

New insights into the pathogenesis and treatment of arterial aneurysms and dissections

Bert CallewaertAnne De PaepeBart Loeys

A2 Journal Article in Current Cardiovascular Risk Reports

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle AudoOlivier VanakkerAlaric SmithBart LeroyAnthony G RobsonSharon A JenkinsPaul CouckeAlan C BirdAnne De PaepeGraham E Holder et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

Olivier VanakkerLudovic MartinDealba GheduzziBart LeroyBart LoeysVeronica I GuerciDirk MatthysSharon F TerryPaul CouckeIvonne Pasquali-Ronchetti et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Three arginine to cysteine substitutions 4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Fransiska MalfaitSofie SymoensJulie De BackerTrinh HERMANNS-LENatzi SAKALIHASANCharles M LAPIEREPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

UGent zet cardiovasculaire genetica in de kijker

A4 Journal Article in ARTSENKRANT (BRUSSEL)

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

Julie De BackerBart LoeysBart LeroyPaul CouckeH DIETZAnne De Paepe

A1 Journal Article in CLINICAL GENETICS

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

Jan HellemansGeert MortierAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in GENOME BIOLOGY

2006

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome

Julie De BackerBart LoeysDaniel DevosH DIETZJohan De SutterAnne De Paepe

A1 Journal Article in GENETICS IN MEDICINE

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Bart LoeysU SCHWARZET HOLMBert CallewaertGH THOMASH PANNUJulie De BackerGL OSWALDS SYMOENSS MANOUVRIER et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

Aortic reflection coefficients and their association with global indexes of wave reflection in healthy controls and patients with Marfan's syndrome

Patrick SegersJulie De BackerDaniel DevosSI RABBENThierry GillebertLucas Van BortelJohan De SutterAnne De PaepePascal Verdonck

A1 Journal Article in AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas: towards an extensive study of the somatic mutation spectrum in neurofibromatosis type 1

Ophélia MaertensHilde BremsJo VandesompeleThomas De RaedtIne HeynsThorsten RosenbaumSofie De SchepperAnne De PaepeGeert MortierSandra Janssens et al.

A1 Journal Article in Human Mutation

De geheimen van de genen ontrafeld in kunsthal St.-Pietersabdij

A4 Journal Article in Magazine Zone09

De presymptomatische test: praktijkgerichte ervaringen van psycholoog en testaanvrager

Anne De PaepeAriane Van TongerlooPhilippe De Wilde

A4 Journal Article in Dominant

Detailed description of cardiovascular findings in Loeys-Dietz syndrome, a widespread and aggressive aortic aneurysm syndrome

Julie De BackerJohan De SutterAnne De PaepeHC DIETZBart Loeys

EDS/OI caused by collagen type I mutations

FRANSISKA MALFAITSofie SymoensYves Vander HaeghenJean NaeyaertN GOEMANSE HOLMBERGM PETERSENPaul CouckeAnne De Paepe

EVII is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements

Bruce PoppeN DASTUGUEJo VandesompeleBarbara CauwelierB DE SMETNurten YigitAnne De PaepeJ CERVERAC RECHERV DE MAS et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Ehlers-Danlos syndrome, classic type

Richard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn MentenN MAASB THIENPONTKaren BuysseJo VandesompeleC MELOTTET DE RAVELS VAN VOORENI BALIKOVAL BACKX et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

QR HUBart LoeysPaul CouckeAnne De PaepeRP MECHAMJ CHOIEC DAVISZ URBAN

A1 Journal Article in HUMAN MOLECULAR GENETICS

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Jan HellemansPhilippe DebeerMichael WrightAndreas JaneckeKlaus W KjaerPeter VerdonkRavi SavarirayanLina BaselCelia MossJohannes Roth et al.

A2 Journal Article in HUMAN MUTATION

Het Ehlers-Danlos syndroom: van genotype naar fenotype

FRANSISKA MALFAITAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes

Katleen De PreterJo VandesompelePierre HeimannNurten YigitSiv BeckmanAlexander SchrammAngelika EggertRaymond L StallingsYves BenoitMarleen Renard et al.

A1 Journal Article in GENOME BIOLOGY

MethBLAST and methPrimerDB: web-tools for PCR based methylation analysis

Filip PattynJasmien HoebeeckPiet RobbrechtEvi MichelsAnne De PaepeG BOTTUD COORNAERTR HERZOGFranki SpelemanJo Vandesompele

A1 Journal Article in BMC BIOINFORMATICS

Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCR beta locus rearrangements and putative new T-cell oncogenes

Barbara CauwelierN DASTUGUEJ COOLSBruce PoppeC HERENSAnne De PaepeA HAGEMEIJERFranki Speleman

A1 Journal Article in LEUKEMIA

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients

Ophélia MaertensH PRENENA WOZNIAKR SCIOTPatrick PauwelsI DE WEVERJR VERMEESCHT DE RAEDTAnne De PaepeFranki Speleman et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Mutation analysis in the FBN1 gene in patients with Marfan Syndrome

Paul CouckePetra Van AckerAnne De Paepe

Bookchapter in Congenital Heart Diseases

Mutation analysis of the FBN1 gene in patients with Marfan syndrome

Paul CouckePetra Van AckerAnne De Paepe

A4 Journal Article in METHODS IN MOLECULAR MEDICINE

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul CouckeAndy WillaertMW WESSELSBert CallewaertN ZOPPIJulie De BackerJE FOXGMS MANCINIM KAMBOURISR GARDELLA et al.

A1 Journal Article in NATURE GENETICS

Primary impairment of left ventricular function in Marfan syndrome

Julie De BackerDaniel DevosPatrick SegersDirk MatthysKatrien FrancoisThierry GillebertAnne De PaepeJohan De Sutter

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

RTPrimerDB : the real-time PCR primer and probe database, major update 2006

Filip PattynPiet RobbrechtAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Recurrent T(3;17)translocations in AML with EVI1 rearrangement

An De WeerBruce PoppeB CauwelierNadine Van RoyN DASTUGUEBarbara De MoerlooseYves BenoitLucien NoensAnne De PaepeFranki Speleman

Recurrent t(3;17) translocations in AML with EVII rearrangement.

A De WeerBruce PoppeB CauwelierNadine Van RoyN DastugueBarbara De MoerlooseYves BenoitLucien NoensAnne De PaepeFranki Speleman

Screening for EVII: ectopic expression absent in T-cell acute lymphoblastic leukemia patients and cell lines

An De WeerBruce PoppeB CauwelierNadine Van RoyN DASTUGUEA HAGEMEIJERAnne De PaepeFranki Speleman

A1 Journal Article in CANCER GENETICS AND CYTOGENETICS

Small-molecule MDM2 antagonists as a new therapy concept for neuroblastoma

Tom Van MaerkenFranki SpelemanJ VERMEULENIrina LambertzSarah De ClercqEls De SmetNurten YigitV COPPENSJan PhilippéAnne De Paepe et al.

A1 Journal Article in CANCER RESEARCH

The TCRB-HOXA rearrangement in T-ALL leads to a specific increase of the alternative HOXA10b transcript

B CauwelierH CAVÉN DASTUGUEP HEIMANNH ANTOINE-POIRELBruno VerhasseltYves BenoitBarbara De MoerlooseNadine Van RoyA HAGEMEIJER et al.

The genetic basis of the joint hypermobility syndromes

Fransiska MalfaitAJ HAKIMAnne De PaepeR GRAHAME

A1 Journal Article in RHEUMATOLOGY

The molecular genetics of Marfan syndrome and related disorders

PN ROBINSONE ARTEAGA-SOLISC BALDOCKG COLLOD-BEROUDP BOOMSAnne De PaepeHC DIETZG GUOPA HANDFORDDP JUDGE et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Kristien HoornaertChantal DewinterInge VereeckeFA BEEMERW COURTENSA FRYERH FRYSSIRAM LEESA MULLNER-EIDENBOCKDL RIMOIN et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma

Jasmien HoebeeckJo VandesompeleHelén NissonKatleen De PreterNadine Van RoyEls De SmetNurten YigitAnne De PaepeGenevieve LaureysSven Påhlman et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Fransiska MalfaitSofie SymoensPaul CouckeL NunesS De AlmeidaAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1

Nadine Van RoyJo VandesompeleBjörn MentenH NILSSONEls De SmetM ROCCHIAnne De PaepeS PAHLMANFranki Speleman

A1 Journal Article in GENES CHROMOSOMES & CANCER

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan's syndrome

Julie De BackerGJ NOLLENDaniel DevosG PALSPaul CouckeKoenraad VerstraeteEE VAN DER WALLAnne De PaepeBJM MULDER

Editorial material

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Olivier VanakkerDirk VoetMirko PetrovicFrédérique Van RobaeysBart LeroyPaul CouckeAnne De Paepe

A1 Journal Article in BRITISH JOURNAL OF RADIOLOGY

2005

A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias

Franki SpelemanBarbara CauwelierN DASTUGUEJ COOLSBruno VerhasseltBruce PoppeNadine Van RoyJo VandesompeleC GRAUXA UYTTEBROECK et al.

A1 Journal Article in LEUKEMIA

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient

LC WALKERMA OVERSTREETA SIDDIQUIAnne De PaepeG CEYLANERFransiska MalfaitSofie SymoensP ATSAWASUWANM YAMAUCHIS CEYLANER et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart LoeysJJ CHENER NEPTUNEDP JUDGEM PODOWSKIT HOLMJ MEYERSCC LEITCHN KATSANISN SHARIFI et al.

A1 Journal Article in NATURE GENETICS

Acquired chromosomal rearrangements targeting selected transcription factors: contribution of molecular cytogenetic and expression analyses to the identification of clinically and biologically relevant subgroups in hematological malignancies

Bruce PoppeFranki SpelemanAnne De Paepe

Aortic aneurysm, short stature and eye anomalies: expanding the phenotype of fibrillin-1 disorders

Julie De BackerPaul CouckeAnne De Paepe

Assessment of global and local pressure wave reflection in the aorta of patients with Marfan disease

Patrick SegersJulie De BackerDaniel DevosS RabbenThierry GillebertLucas Van BortelJohan De SutterAnne De PaepePascal Verdonck

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

MR AIS HEEGERCF BARTELSDK SCHELLINGOsteoporosis-Pseudoglioma Collaborative GroupAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome

Diane BeysenJeroen RaesBart LeroyA LucassenJRW YatesJ Clayton-SmithH IlyinaSS BrooksS Christin-MaitreMarc Fellous et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

HOYA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS

Bruce PoppeNurten YigitBarbara De MoerlooseAnne De PaepeYves BenoitFranki Speleman

A1 Journal Article in CANCER GENETICS AND CYTOGENETICS

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Björn MentenKaren BuysseJo VandesompeleEls De SmetAnne De PaepeFranki SpelemanGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Klinische genetica, cytogenetica en moleculaire genetica

Elfride De BaereAnne De PaepeJuliaan Leroy

Bookchapter in Codex medicus

Loeys-Dietz syndrome: a new aortic aneurysm syndrome with an aggressive clinical course and widespread vascular involvement

Julie De BackerBart LoeysPaul CouckeJ CHENHC DIETZAnne De Paepe

Magnitude and timing of arterial wave reflection in patients with Marfan disease

Patrick SegersJulie De BackerDaniel DevosSI RABBENJohan De SutterPascal VerdonckLucas Van BortelAnne De Paepe

Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men

Patricia CrabbeW BALEMANSAndy WillaertI VAN POTTELBERGHE CLEIRENPaul CouckeMR AIStefan GoemaereW VAN HULAnne De Paepe et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Molecular genetics in classic Ehlers-Danlos syndrome

Fransiska MalfaitAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutation analysis of the FBN1 gene in individuals with Marfan syndrome: sensitivity, methods, clinical indications

Anne De PaepeBart LoeysPaul Coucke

Bookchapter in Marfan Syndrome : a primer for clinicians and scientists

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

EA OTTOB LOEYSH KHANNAJan HellemansR SUDBRAKSL FANU MUERBJF O'TOOLEJ HELOUM ATTANASIO et al.

A1 Journal Article in NATURE GENETICS

No evidence for correlation of DDX1 gene amplification with improved survival probability in patients with MYCN-amplified neuroblastomas

Katleen De PreterFranki SpelemanValérie CombaretJohn LunecJulien BoardAndy PearsonAnne De PaepeNadine Van RoyGenevieve LaureysJo Vandesompele

A1 Journal Article in JOURNAL OF CLINICAL ONCOLOGY

Novel cryptic chromosomal rearrangements in childhood acute lymphoblastic leukemia detected by multiple color fluorescent in situ hybridization

Bruce PoppeBarbara CauwelierH VAN LIMBERGENNurten YigitJan PhilippéBruno VerhasseltAnne De PaepeYves BenoitFranki Speleman

A1 Journal Article in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL

Oral health in prevalent types of Ehlers-Danlos syndromes

Peter De CosterLuc MartensAnne De Paepe

A1 Journal Article in JOURNAL OF ORAL PATHOLOGY & MEDICINE

PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements

Bruce PoppeP DE PAEPEL MICHAUXN DASTUGUEC BASTARDC HERENSELS MOREAUF CAVAZZININurten YigitH VAN LIMBERGEN et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Pressure wave reflection is increased in patients with Marfan disease, but is not associated with aortic root diameter

Patrick SegersJulie De BackerDaniel DevosThierry GillebertLucas Van BortelJohan De SutterAnne De PaepePascal Verdonck

Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: Association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes

Kim De RuyckMarc Van EijkerenKathleen ClaesR MORTHIERAnne De PaepeAnne VralLeo De RidderHubert Thierens

A1 Journal Article in INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Rapid detection of VHL exon deletions using real-time quantitative PCR

Jasmien HoebeeckR VAN DER LUIJTBruce PoppeEls De SmetNurten YigitKathleen ClaesR ZEWALDGJ DE JONGAnne De PaepeFranki Speleman et al.

A1 Journal Article in LABORATORY INVESTIGATION

Recente moleculaire inzichten in erfelijke borst- en ovariumkanker in België

Kathleen ClaesBruce PoppeIlse CoeneL MESSIAENAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

Fransiska MalfaitPaul CouckeSofie SymoensBart LoeysLieve NuytinckAnne De Paepe

A1 Journal Article in HUMAN MUTATION

The use of Tissue Doppler Imaging for the assessment of changes in myocardial structure and function in inherited cardiomyopathies

Julie De BackerDirk MatthysThierry GillebertAnne De PaepeJohan De Sutter

A2 Journal Article in EUROPEAN JOURNAL OF ECHOCARDIOGRAPHY

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

Jo VandesompeleM BAUDISKatleen De PreterNadine Van RoyP AMBROSN BOWNC BRINKSCHMIDTH CHRISTIANSENV COMBARETM LASTOWSKA et al.

A1 Journal Article in JOURNAL OF CLINICAL ONCOLOGY

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Björn MentenFilip PattynKatleen De PreterPiet RobbrechtEvi MichelsKaren BuysseGeert MortierAnne De PaepeSteven van VoorenJoris Vermeesch et al.

A1 Journal Article in BMC BIOINFORMATICS

2004

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Kathleen ClaesBruce PoppeIlse CoeneAnne De PaepeLudwine Messiaen

A1 Journal Article in BRITISH JOURNAL OF CANCER

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

Anne De PaepeFransiska Malfait

A1 Journal Article in BRITISH JOURNAL OF HAEMATOLOGY

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

Katleen De PreterFilip PattynGeert BerxKristin StrumaneBjörn MentenFrans Van RoyAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in BMC GENOMICS

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

Bart LoeysJulie De BackerPetra Van AckerKaren WettinckG PALSLieve NuytinckPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Congenital diaphragmatic eventration and bilateral ureterohydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

N REVENCUG QUENUMT DETAILLEG VERELLENAnne De PaepeC VERELLEN-DUMOULIN

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Correlations between aortic stiffness, clinical phenotype and mutations of FBN1 in patients with Marfan syndrome

G NOLLENJulie De BackerDaniel DevosG PALSKoenraad VerstraeteE VAN DER WALLAnne De PaepeMULDER BARBARA

Craniofacial structure in Marfan syndrome: A cephalometrie study

Peter De CosterGuy De PauwLuc MartensAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DUP25 remains unconfirmed

Stefan VermeulenBjörn MentenSylvia De BiePaul CouckeFransiska MalfaitJulie De BackerFranki SpelemanAnne De PaepeB LOEYS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dental anomalies associated with congenital contractural arachnodactyly

Peter De CosterLuc MartensAnne De Paepe

A1 Journal Article in PEDIATRIC DENTISTRY

Dienstverlening centraal: debat over 'genetica in het dagelijkse leven': zit het in mijn genen

A4 Journal Article in ARTSENKRANT (BRUSSEL)

Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome

R PALLOTTAT EHRESMANNP FUSILLIAnne De PaepeLieve Nuytinck

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ehlers-Danlos syndrome

Fransiska MalfaitPaul CouckeAnne De Paepe

Bookchapter in Encyclopedia of medical genomics and proteomics

Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies

Bruce PoppeJo VandesompeleC SCHOCHC LINDVALLK MROZEKCD BLOOMFIELDHB BEVERLOOL MICHAUXN DASTUGUEC HERENS et al.

A1 Journal Article in BLOOD

Familiale aandoeningen van de thoracale aorta

Julie De BackerJohan De SutterDaniel DevosKatrien FrancoisThierry GillebertAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Gene-expression profiling reveals distinct expression patterns for classic versus variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma

M VAN GELEGM BOYLEAL COOKJo VandesompeleTom BoonefaesPieter RottiersNadine Van RoyAnne De PaepePG PARSONSJH LEONARD et al.

A1 Journal Article in ONCOGENE

Het syndroom van Marfan bij kinderen: diagnostiek en behandeling

Julie De BackerAnne De Paepe

A4 Journal Article in Belgische Vereniging voor Kinderartsen

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha(2)beta(1) integrin, and recruit alpha(v)beta(3) instead of alpha(5)beta(1) integrin

N ZOPPIR GARDELLAAnne De PaepeS BARLATIM COLOMBI

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan HellemansO PREOBRAZHENSKAAndy WillaertP DEBEERPETER VERDONKT COSTAK JANSSENSBjörn MentenNadine Van RoyStefan Vermeulen et al.

A1 Journal Article in NATURE GENETICS

Met > Val substitution in a highly conserved region of the pro-alpha 1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Sofie SymoensLieve NuytinckE LEGIUSFransiska MalfaitPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints

Stefan VermeulenBjörn MentenNadine Van RoyHeidi Van LimbergenAnne De PaepeGeert MortierFranki Speleman

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation analysis of the LRP5 gene in men with idiopathic osteoporosis

P CRABBEAndy WillaertI VAN POTTELBERGHPaul CouckeS GOEMAEREAnne De PaepeJ KAUFMAN

Neurofibromin is actively transported to the nucleus

Ina VandenbrouckePatric Van OostveldtElisabeth CoeneAnne De PaepeLudwine Messiaen

A1 Journal Article in FEBS LETTERS

No evidence for involvement of SDHD in neuroblastoma pathogenesis

Katleen De PreterJo VandesompeleJasmien HoebeeckCaroline VandenbroeckeJoél SmetAnnick NuytsGenevieve LaureysValérie CombaretNadine Van RoyFrank Roels et al.

A1 Journal Article in BMC CANCER

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene

A COLIGELieve NuytinckI HAUSSERAJ VAN ESSENM THIRYC HERENSLC ADESFransiska MalfaitAnne De PaepeP FRANCK et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Orofacial manifestations of congenital fibrillin deficiency: Pathogenesis and clinical diagnostics

Peter De CosterLuc MartensAnne De Paepe

A1 Journal Article in PEDIATRIC DENTISTRY

Patients with Marfan syndrome show reduced contraction and relaxation velocities suggesting a primary contractile deficit: a tissue Doppler imaging study

Julie De BackerDaniel DevosThierry GillebertAnne De PaepeJohan De Sutter

Results from an extensive FBN1 mutation analysis in Marfan patients

B LOEYSAnne De Paepe

A4 Journal Article in Newsletter European Marfan Society Network

Routine microsatellite instability testing in sporadic colorectal tumours

Nancy Van DammePieter DemetterKathleen ClaesBruce PoppeF BAERTJ ROELENSAnne De PaepeClaude CuvelierMarc Peeters

The human FOXL2 mutation database

Diane BeysenJo VandesompeleL MESSIAENAnne De PaepeElfride De Baere

A1 Journal Article in HUMAN MUTATION

The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation

E SERMIJNG GOELENE TEUGELSL KAUFMANM BONDUELLEB NEYNSBruce PoppeAnne De PaepeJ DE GREVE

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)

Fransiska MalfaitPeter De CosterI HAUSSERAJ VAN ESSENP FRANCKA COLIGEB NUSGENSLuc MartensAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Three new families with arterial tortuosity syndrome

MW WESSELSCE CATSMAN-BERREVOETSGMS MANCINIMH BREUNINGJJM HOOGEBOOMH STROINKI FROHN-MULDERPaul CouckeAnne De PaepeMF NIERMEIJER et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2003

Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells

Katleen De PreterJo VandesompelePierre HeimannMark M KockxMireille Van GeleJasmien HoebeeckEls De SmetMartine DemarcheGenevieve LaureysNadine Van Roy et al.

A1 Journal Article in CANCER LETTERS

BRCA-genmutaties bij borstkanker

Bruce PoppeRudy Van den BroeckeAnne De Paepe

A2 Journal Article in PATIENT CARE (BELGIE NEDERLANDSE ED.)

BRCA1/2 mutation spectrum and frequencies in Belgian breast/ovarian cancer families

Kathleen ClaesBruce PoppeIlse CoeneAnne De PaepeLudwine Messiaen

Cutis Laxa of the autosomal recessive type in a consanguineous family

Sofie De SchepperBart LoeysAnne De PaepeJo LambertJean Naeyaert

A1 Journal Article in EUROPEAN JOURNAL OF DERMATOLOGY

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2

Kathleen ClaesBruce PoppeE MACHACKOVAIlse CoeneL FORETOVAAnne De PaepeLudwine Messiaen

A1 Journal Article in GENES CHROMOSOMES & CANCER

Ehlers-Danlos syndrome, classic type

Richard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors

Nadine Van RoyM VAN GELEJo VandesompeleLudwine MessiaenSimon Van BelleR SCIOTK MORTELEJ GYSELINCKE MICHIELSRamses Forsyth et al.

A1 Journal Article in CANCER GENETICS AND CYTOGENETICS

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Elfride De BaereDiane BeysenChristine OleyBirgit LorenzJulie CocquetPetra De SutterKoen DevriendtMichael DixonMarc FellousJean-Pierre Fryns et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Gene expression profiling reveals two distinct subtypes of Merkel cell carcinoma

M VAN GELEG BOYLEAL COOKTom BoonefaesPieter RottiersNadine Van RoyAnne De PaepeP PARSONSJH LEONARDFranki Speleman

Gene expression profiling reveals two distinct subtypes of Merkel cell carcinoma. The Merkel cell

M VAN GELEG BOYLEA COOKTom BoonefaesP ROTTIERSNadine Van RoyAnne De PaepeP PARSONSJ LEONARDFranki Speleman

Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management

BL LoeysDirk MatthysAnne De Paepe

Editorial material

Homozygosity mapping of a gene for arterial tortuosity snydrome

Paul CouckeNW WESSELSPetra Van AckerR GARDELLAS BARLATIPJ WILLEMSM COLOMBIAnne De Paepe

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Paul CouckeMW WesselsPetra Van AckerR GardellaS BarlatiPJ WillemsM ColombiAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips

Jan HellemansPaul CouckeA GIEDIONAnne De PaepeP KRAMERF BEEMERGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

C DODEJ LEVILLIERSJM DUPONTAnne De PaepeN LE DUN SOUSSI-YANICOSTASRS COIMBRAS DELMAGHANIS COMPAIN-NOUAILLEF BAVEREL et al.

A1 Journal Article in NATURE GENETICS

More than 125 FOXL2 mutations and variants in BPES and POF patients in the human FOXL2 allelic variant database

Diane BeysenJo VandesompeleFilip PattynAnne De PaepeLudwine MessiaenElfride De Baere

Pathologieën van collageen en elastine: recent verworven inzichten

A4 Journal Article in NEDERLANDS TIJDSCHRIFT VOOR DERMATOLOGIE & VENEREOLOGIE

RTPrimerDB : the Real-Time PCR primer and probe database

Filip PattynFranki SpelemanAnne De PaepeJo Vandesompele

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Split hand foot malformation is associated with a reduced level of Dactylin gene expression

D BASELAnne De PaepeMW KILPATRICKP TSIPOURAS

A1 Journal Article in CLINICAL GENETICS

The genetic basis of Osteogenesis Imperfecta

Fransiska MalfaitAnne De Paepe

A4 Journal Article in 'T BUITENBEENTJE (EEKLO)

The natural history of human dermatosparaxis: A report of two cases

Fransiska MalfaitPeter De CosterI HAUSSERP FRANCKAnne De Paepe

Therapie van het colorectaal carcinoom : kunnen biologische merkers het beleid beïnvloeden?

B SierensMarc PeetersBruce PoppeAnne De PaepePieter DemetterClaude CuvelierMartine De Vos

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

Peter De CosterFransiska MalfaitLC MARTENSAnne De Paepe

A1 Journal Article in JOURNAL OF ORAL PATHOLOGY & MEDICINE

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database

G COLLOD-BEROUDS LE BOURDELLESL ADESL ALA-KOKKOP BOOMSM BOXERA CHILDP COMEGLIOAnne De PaepeJC HYLAND et al.

A1 Journal Article in HUMAN MUTATION

2002

A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features

Sofie SymoensLieve NuytinckPaul CouckeBart LoeysE LegiusAnne De Paepe

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

Jo VandesompeleKatleen De PreterFilip PattynBruce PoppeNadine Van RoyAnne De PaepeFranki Speleman

A1 Journal Article in GENOME BIOLOGY

Acute intramural haematoma of the coeliac artery.

HJ KRUSEM WEISELieve NuytinckAnne De PaepeSM SCHELLONG

A1 Journal Article in VASA-JOURNAL OF VASCULAR DISEASES

Combined karyotyping, CGH and M-fish analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma.

Mireille Van GeleJH LEONARDNadine Van RoyHeidi Van LimbergenSimon Van BelleVeronique CocquytH SALWENAnne De PaepeFranki Speleman

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Complex splicing pattern generates great diversity in human NF1 transcripts

Ina VandenbrouckeTom CallensAnne De PaepeLudwine Messiaen

A1 Journal Article in BMC Genomics

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.

Bart LoeysPiet HoebekeAnn RaesLudwine MessiaenAnne De PaepeJohan Vande Walle

A1 Journal Article in BJU INTERNATIONAL

Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real time RT-PCR.

Jo VandesompeleAnne De PaepeFranki Speleman

A1 Journal Article in ANALYTICAL BIOCHEMISTRY

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

G MATYASAnne De PaepeD HALLIDAYC BOILEAUG PALSB STEINMANN

A1 Journal Article in HUMAN MUTATION

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Bart LoeysL VAN MALDERGEMGeert MortierPaul CouckeS GERNIERSJean NaeyaertAnne De Paepe

A1 Journal Article in HUMAN MOLECULAR GENETICS

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

C GiuntaLieve NuytinckM RaghunathI HausserAnne De PaepeB Steinmann

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH.

Heidi Van LimbergenBruce PoppeL MICHAUXC HERENSJ BROWNLucien NoensZ BERNEMANR DE BOCKAnne De PaepeFranki Speleman

A1 Journal Article in GENES CHROMOSOMES & CANCER

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

Stefan VermeulenLudwine MessiaenP SCHEIRSylvia De BieFranki SpelemanAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type I patients.

Nadine Van RoyJo VandesompeleGeert BerxK STAESMireille Van GeleEls De SmetAnne De PaepeGenevieve LaureysP VAN DER DRIFTR VERSTEEG et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Meerkleuren fluorescentie in situ hybridisatie: methodologie en toepassingen in diagnostiek en onderzoek

Heidi Van LimbergenBruce PoppeStefan VermeulenNadine Van RoyAnne De PaepeFranki Speleman

A4 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE VERENIGING VAN LABORATORIUM-TECHNOLOGEN = REVUE DE L'ASSOCIATION BELGE DES TECHNOLOGUES DE LABORATOIRE

Moleculaire genetica bij de vasculaire vorm van het syndroom van Ehlers-Danlos

Bart LoeysJulie De BackerDirk MatthysAnne De Paepe

A4 Journal Article in PERCENTIEL (NEDERLANDSE ED.)

Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia.

Heidi Van LimbergenBruce PoppeA JANSSENSR DE BOCKAnne De PaepeL NOENSFranki Speleman

A1 Journal Article in LEUKEMIA

Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis

Elfride De BaereDiane BeysenC OLEYPetra De SutterA GARZAC JONSRUDP KOIVISTOBart LeroyB LORENZFrançoise Meire et al.

Oral manifestations of Marfan syndrome

Peter De CosterLuc MartensAnne De Paepe

Oral manifestations of patients with Marfan syndrome: A case-control study.

Peter De CosterLuc MartensAnne De Paepe

A1 Journal Article in ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS

Orofacial manifestations in a thirteen-year-old girl with dermatosparaxis (Ehlers-Danos syndrome type VIIc)

Peter De CosterFRANSISKA MALFAITLuc MartensAnne De Paepe

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5 ' end of the BRCA1 gene.

Kathleen ClaesJo VandesompeleBruce PoppeK DAHANI COENEAnne De PaepeLudwine Messiaen

A1 Journal Article in ONCOGENE

Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantitative PCR assay.

Katleen De PreterFranki SpelemanV COMBARETJ LUNECGenevieve LaureysB EUSSENN FRANCOTTEJ BOARDA PEARSONAnne De Paepe et al.

A1 Journal Article in MODERN PATHOLOGY

Quantification of NF1 transcripts reveals novel highly expressed splice variants.

Ina VandenbrouckeJo VandesompeleAnne De PaepeLudwine Messiaen

A1 Journal Article in FEBS LETTERS

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Bart LoeysLieve NuytinckPetra Van AckerSOPHIE WALRAEDTM BONDUELLEK SERMONB HAMELA SANCHEZLudwine MessiaenAnne De Paepe

A1 Journal Article in PRENATAL DIAGNOSIS

The natural history of human dermatosparaxis (Ehlers-Danios Syndrome VII C)

Fransiska MalfaitBart LoeysPeter De CosterAnne De Paepe

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIc)

FRANSISKA MALFAITBart LoeysPeter De CosterAnne De Paepe

Vitamin D receptor gene allelic variants, bone density, and bone turnover in community-dwelling men.

Inge Van PottelberghStefan GoemaereDirk De BacquerAnne De PaepeM KAUFMAN

A1 Journal Article in BONE

Wanneer speelt erfelijkheid een rol

Anne De PaepeBruce Poppe

Bookchapter in Omgaan met darmkanker

2001

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

O LE SAUXK BECKC SACHSINGERC SILVESTRIC TREIBERH GORINGEW JOHNSONAnne De PaepeFM POPEI PASQUALI-RONCHETTI et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.

T JANSENAnne De PaepeLieve NuytinckP ALTMEYER

A1 Journal Article in BRITISH JOURNAL OF DERMATOLOGY

Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.

Hans Van VlierbergheJR DELANGHESylvia De BieMarleen PraetAnne De PaepeLudwine MessiaenMartine De VosGeert Leroux-Roels

A1 Journal Article in EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men.

Inge Van PottelberghStefan GoemaereLieve NuytinckAnne De PaepeJean Kaufman

A1 Journal Article in OSTEOPOROSIS INTERNATIONAL

Carrier screening for cystic fibrosis in a prenatal setting.

Isabelle DelvauxAriane Van TongerlooLudwine MessiaenC VAN LOONSylvia De BieGeert MortierAnne De Paepe

A1 Journal Article in GENETIC TESTING

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

R GARDELLALieve NuytinckS BARLATIPetra Van AckerG TADINIAnne De PaepeM COLOMBI

A1 Journal Article in CLINICAL AND EXPERIMENTAL DERMATOLOGY

Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.

Bruce PoppeHeidi Van LimbergenNadine Van RoyE VANDECRUYSAnne De PaepeYves BenoitFranki Speleman

A1 Journal Article in CANCER GENETICS AND CYTOGENETICS

Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines.

Nadine Van RoyHeidi Van LimbergenJo VandesompeleMireille Van GeleBruce PoppeH SALWENGenevieve LaureysN MANOELAnne De PaepeFranki Speleman

A1 Journal Article in GENES CHROMOSOMES & CANCER

Frequent allelic loss at 10q23 but low incidence of PTEN mutations in Merkel cell carcinoma

Mireille Van GeleJ Helen LeonardNadine Van RoyAnthony L CookAnne De PaepeFranki Speleman

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Genetisch advies bij het familiaal voorkomen van borstkanker

Bruce PoppeI MEIREI DELVAUXKathleen ClaesL MESSIAENAnne De Paepe

A4 Journal Article in Guneikeïa

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Bart LoeysLieve NuytinckIsabelle DelvauxSylvia De BieAnne De Paepe

A1 Journal Article in ARCHIVES OF INTERNAL MEDICINE

Heritable collagen disorders: From genotype to phenotype.

Anne De PaepeLieve Nuytinck

A1 Journal Article in ACTA CLINICA BELGICA

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

YQ GONGRB SLEEN FUKAIG RAWADIS ROMAN-ROMANAM REGINATOHW WANGT CUNDYFH GLORIEUXD LEV et al.

A1 Journal Article in CELL

Molecular characterization of a t(2;3)(p23;q26): A recurrent translocation involving the EVI1 gene

Bruce PoppeNurten YigitP MARYNENA HAGEMEIJERH VAN LIMBERGENB DE SMETAnne De PaepeFranki Speleman

Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia.

Heidi Van LimbergenHB BEVERLOOE VAN DRUNENAnn JanssensK HAHLENBruce PoppeNadine Van RoyP MARYNENAnne De PaepeR SLATER et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Multivariate analyse van de mondgezondheid en orale symptomen in het Marfan syndroom

Peter De CosterLuc MartensAnne De Paepe

Quantification of splice variants using real-time PCR

Ina VandenbrouckeJo VandesompeleAnne De PaepeLudwine Messiaen

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Elfride De BaereM DIXONK SMALLE JABSBart LeroyK DEVRIENDTY GILLEROTGeert MortierFrançoise MeireL VAN MALDERGEM et al.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Elfride De BaereMichael J DixonKent W SmallEthylin W JabsBart LeroyKoenraad DevriendtYves GillerotGeert MortierFrançoise MeireLioinel Van Maldergem et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

2000

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Claudine De PraeterGJ GERWIGE BAUSELieve NuytinckJ VLIEGENTHARTW BREUERJP KAMERLINGMarc EspeelJ MARTINAnne De Paepe et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

A novel disorder in a newborn caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

JFG VliegenthartClaudine De PraeterGG GerwigE BauseLieve NuytinckW BreuerJP KamerlingMarc EspeelJJR MartinAnne De Paepe et al.

Acrogeria of the Gottron type in a mother and son

M BlaszczykAnne De PaepeLieve NuytinckM Glinska-FerenzS Jablonska

A1 Journal Article in EUROPEAN JOURNAL OF DERMATOLOGY

Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.

Jo LambertJM NAEYAERTAnne De PaepeRudy Van CosterA FERSTERM SONGLudwine Messiaen

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Association between the Cys282Tyr missense mutation and the haptoglobin phenotype polymorphism in patients with chronic hepatitis C

Hans Van VlierbergheLudwine MessiaenAnne De PaepeJoris DelangheMarleen PraetM De VosGeert Leroux-Roels

COL3A1 mutation leading to acrogeria (Gottron type).

T JANSENAnne De PaepeN LUYTINCKG PLEWIG

A1 Journal Article in BRITISH JOURNAL OF DERMATOLOGY

Chromosome 2 short arm translocations revealed by M-FISH analysis of neuroblastoma cell lines.

Nadine Van RoyHeidi Van LimbergenJo VandesompeleMireille Van GeleBruce PoppeGenevieve LaureysAnne De PaepeFranki Speleman

A1 Journal Article in MEDICAL AND PEDIATRIC ONCOLOGY

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

Lieve NuytinckM FREUNDL LAGAEGE PIERARDT HERMANNS-LEAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Geert MortierLieve NuytinckMargarita CraenJean-Pierre RenardJuliaan LeroyAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Ludwine MessiaenT CALLENSGeert MortierDiane BeysenIna VandenbrouckeNadine Van RoyFranki SpelemanAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Familiale borst- en/of ovariumkanker: diagnostisch en predictief genetisch onderzoek

Isabelle DelvauxM De VosBruce PoppeGeert MortierAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Lieve NuytinckT TUKELH KAYSERILIMY APAKAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Homozygosity for G530S in COL5A1 in a patient with the classical type of Ehlers-Danlos syndrome (EDS).

C GiuntaL NuytinckM RaghunathI HausserAnne De PaepeB Steinmann

Identification and characterisation of a founder mutation in the Belgian breast/ovarian cancer population

Kathleen ClaesBruce PoppePETRA SCHEIRM De VosI DelveauxIlse CoeneAnne De PaepeLudwine Messiaen

Mutation analysis of P73 and TP53 in Merkel cell carcinoma.

Mireille Van GeleM KAGHADJH LEONARDNadine Van RoyJean NaeyaertMarie GeertsSimon Van BelleVeronique CocquytJ BRIDGER SCIOT et al.

A1 Journal Article in BRITISH JOURNAL OF CANCER

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

O LE SAUXZ URBANC TSCHUCHK CSISZARB BACCHELLID QUAGLINOI PASQUALI-RONCHETTIFM POPEA RICHARDSS TERRY et al.

A1 Journal Article in NATURE GENETICS

Nieuwe inzichten in de moleculaire oorzaken van familiale borst- en ovariumkanker

Kathleen ClaesAnne De PaepeLudwine Messiaen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Presymptomatic testing for genetic diseases: new frontiers, new dilemmas.

A1 Journal Article in ACTA CLINICA BELGICA

Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients with hereditary hemochromatosis.

Hans Van VlierbergheLudwine MessiaenMarc HautekeeteAnne De Paepe

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Geert MortierMary Ann WeisLieve NuytinckLily M KingDouglas J WilkinAnne De PaepeRalph S LachmanDavid L RimoinDavid R EyreDaniel H Cohn

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)

Geert MortierMary Ann WeisLieve NuytinckLily M KingDouglas J WilkinAnne De PaepeRS LachmanDavid L RimoinDavid R EyreDaniel H Cohn

Symposium - Genetica in de praktijk, wat biedt 2000 ?

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Transcript mapping of the BPES critical region at 3q23: identification of novel candidate genes

Elfride De BaereLeen De VuystAnne De PaepeLudwine Messiaen

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.

A DE VOSK SERMONH VAN DE VELDEH JORISM VANDERVORSTW LISSENSAnne De PaepeI LIEBAERSA VAN STEIRTEGHEM

A1 Journal Article in HUMAN GENETICS

1999

A single step real-time quantitative RT-PCR reaction for detection of the BCR/ABL fusion product

H VAN LIMBERENL VAN DE LOCHTBruce PoppeAnne De PaepeFritz OffnerE MENSINKFranki Speleman

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

RF KOOYE REYNIERSK STORML VITSD VAN VELZENPE DE RUITERAO BRINKMANNAnne De PaepePJ WILLEMS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Chromosome 7 short arm deletions and disease progression in CML

Bruce PoppeH VAN LIMBERGENANN JANSSENSNadine Van RoyBarbara De MoerlooseJ PHILLIPEAnne De PaepeFritz OffnerFranki Speleman

Closing in an the BPES gene on 3q23: Mapping of a de nova reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta '-COP, distal to the breakpoint

Elfride De BaereNadine Van RoyFranki SpelemanY FUKUSHIMAAnne De PaepeLudwine Messiaen

A1 Journal Article in GENOMICS

Cytogenetic findings in bloom syndrome patients with myeloid malignancies

Bruce PoppeYves BenoitH VAN LIMBERGENNadine Van RoyEls VandecruysA JAUCHAnne De PaepeJ GERMANFranki Speleman

Dural ectasia and the diagnosis of Marfan's syndrome

Editorial material

Erfelijke hemochromatose: van Kelten en IJzeren Tijdperk tot genetische diagnose.

Hans Van VlierbergheLudwine MessiaenMarc HautekeeteA ELEWAUTAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Exclusion of the beta '-COP gene and identification of a novel candidate gene for the blepharophimosis syndrome (BPES)

Elfride De BaereE ROMANY FUKUSHIMAK VERHOEVENG VAN CAMPAnne De PaepeLudwine Messiaen

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

Ludwine MessiaenT CALLENSKJ ROUXGeert MortierAnne De PaepeM ABRAMOWICZMA PERICAK-VANCEJM VANCEMR WALLACE

A1 Journal Article in GENETICS IN MEDICINE

Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach

M De VosBruce PoppeIsabelle DelvauxGeert MortierKathleen ClaesLudwine MessiaenAnne De Paepe

A1 Journal Article in DISEASE MARKERS

Identification of a novel CBFB/MYH11 fusion in a patient with AML-M1 and a t(16;16)(p13;q22)

H VAN LIMBERGENB VAN DER REIJDENBruce PoppeFritz OffnerNadine Van RoyH DAUWERSEAnne De PaepeFranki Speleman

Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5+3A > G

Kathleen ClaesE MachackovaMartine De VosBruce PoppeAnne De PaepeLudwine Messiaen

A1 Journal Article in DISEASE MARKERS

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Kathleen ClaesEva MachackovaMichel De VosGeert MortierAnne De PaepeLudwine Messiaen

A2 Journal Article in HUMAN MUTATION

Neuroblastoma: from molecular cytogenetics to gene expression profiling

Jo VandesompeleNadine Van RoyGeert BerxD PLANTAZAnne De PaepeGenevieve LaureysFrans Van RoyFranki Speleman

Occipital Horn syndrome in a 2-year-old boy.

Anne De PaepeBart LoeysK DEVRIENDTJP FRYNS

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.

Lieve NuytinckBS SAYLIW. KarenAnne De Paepe

A1 Journal Article in PRENATAL DIAGNOSIS

Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome: a case report

M De VosLieve NuytinckC VerellenAnne De Paepe

A1 Journal Article in FETAL DIAGNOSIS AND THERAPY

Refined physical mapping and genomic structure of the EXTL1 gene.

W WUYTSN SPIEKERNadine Van RoyK DE BOULLEAnne De PaepePJ WILLEMSW VAN HULR VERSTEEGFranki Speleman

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Sp1 polymorphism at the COL1A1 gene as a determinant of bone density in elderly men

I van PottelberghLieve NuytinckStefan GoemaereHans-Georg ZmierczakK ToyeM DaemsAnne De PaepeJean Kaufman

Unusual chromosome 16 rearrangement with absence of classical CBFB/MYH11 fusion transcripts

H VAN LIMBERGENBA VAN DER REIJDENBruce PoppeNadine Van RoyH DAUWERSEAnne De PaepeFranki Speleman

Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT

Geert VilleirsAriane Van TongerlooKoenraad VerstraeteMarc KunnenAnne De Paepe

A1 Journal Article in NEURORADIOLOGY

1998

A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I

Lieve NuytinckC CoppinAnne De Paepe

A1 Journal Article in MATRIX BIOLOGY

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations

Jarmo KörkköLeena Ala-KokkoAnne De PaepeLieve NuytinckJames EarleyDarwin J Prockop

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Application of fluorescence in situ hybridization to the identification of different marker chromosomes.

MR VERSCHRAEGEN-SPAEB QUACKS ROUSSEAUXH PISONLudwine MessiaenAnne De PaepeJ LESPINASSE

A1 Journal Article in ANNALES DE GENETIQUE

Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25 -> q26.1 by in situ hybridization.

Elfride De BaereFranki SpelemanNadine Van RoyAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta ' subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization

Elfride De BaereFranki SpelemanNadine Van RoyAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization

Elfride De BaereFranki SpelemanNadine Van RoyK MORTIERAnne De PaepeLudwine Messiaen

A1 Journal Article in CYTOGENETICS AND CELL GENETICS

Bruck syndrome: neonatal presentation and natural course in three patients.

Juliaan LeroyLieve NuytinckAnne De PaepeM DE RAMMELAEREY GILLEROTA VERLOESBart LoeysW DE GROOTE

A1 Journal Article in PEDIATRIC RADIOLOGY

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Geert MortierLudwine MessiaenMarc EspeelKJ SMETSBart VanzieleghemFrank RoelsAnne De Paepe

A1 Journal Article in PEDIATRIC RADIOLOGY

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

DJ WILKINGeert MortierCL JOHNSONMC JONESAnne De PaepeM SHOHATRS WILDINRE FALKDH COHN

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum

Michael D BriggsGeert MortierWillam G ColeLily M KingSteven S GolikJacky BonaventureLieve NuytinckAnne De PaepeJuliaan LeroyLeslie Biesecker et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997.

P BEIGHTONAnne De PaepeB STEINMANNP TSIPOURASRJ WENSTRUP

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Fluorescent in-situ hybridization on human embryos showing cleavage arrest after freezing and thawing

H LavergeJosiane Van der ElstPetra De SutterMR Verschraegen-SpaeAnne De PaepeMarc Dhont

A1 Journal Article in HUMAN REPRODUCTION

Genetic heterogeneity of neuroblastoma studied by comparative genomic hybridization.

Jo VandesompeleNadine Van RoyMireille Van GeleGenevieve LaureysP AMBROSP HEIMANNC DEVALCKE SCHUURINGP BROCKJ OTTEN et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

Human myosin V gene produces different transcripts in a cell type-specific manner

Jo LambertJean NaeyaertTOM CALLENSAnne De PaepeLudwine Messiaen

A1 Journal Article in BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Marfan database (third edition) : new mutations and new routines for the software

Gwenaëlle Collod-BéroudChristophe BéroudLesley AdesCheryl BlackMaureen BoxerDavid JH BrocksKatherine J HolmanAnne De PaepeUta FranckeUlrich Grau et al.

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Molecular diagnostic evaluation of NF1 patients using the combined approach of karyotyping, fluorescent in situ hybridisation, the protein truncation assay and heteroduplex analysis

Ludwine MessiaenGeert MortierT CallensNadine Van RoyFranki SpelemanAnne De Paepe

Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.

Ariane Van TongerlooAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

The biochemical and molecular basis of mild osteogenesis imperfecta

Lieve NuytinckM Van ThielenAnne De Paepe

The vascular type of the Ehlers-Danlos syndrome: update on the correlation between molecular and phenotypic findings

Lieve NuytinckM De VosAnne De Paepe

1997

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.

Ludwine MessiaenConny VAN LOONRudi ROSSAUIlse DE CANCKFrans De BaetsEddy ROBBRECHTAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Autopsy diagnosis of the Smith-Lemli-Opitz syndrome

Franny FaesELI VercruysseGeorges DacremontAnne De PaepeJuliaan Leroy

Correlation of ultrastructural collagen fibril aberrations with a mutation in the COL5A1 gene in Ehlers-Danlos syndrome type I

I HausserAnne De PaepeLieve NuytinckJean-Marie NaeyaertI Anton Lamprecht

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

Anne De PaepeLieve NuytinckMarc RaesJean-Pierre Fryns

A1 Journal Article in HUMAN GENETICS

Monosomy 22 in a mixed germ cell sex cord stromal tumor of the ovary

Franki SpelemanBart DermautChristian R De PotterMireille Van GeleNadine Van RoyAnne De PaepeGenevieve Laureys

A1 Journal Article in GENES CHROMOSOMES & CANCER

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

Anne De PaepeLieve NuytinckIngrid HausserIngrun Anton-LamprechtJean Naeyaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Numerieke chromosomale afwijkingen in zaadcellen van patiënten met oligosthenoateratozoospermia

J Laverge H Van der ElstPK De SutterMR Verschraegen-SpaeAnne De PaepeM Dhont

A2 Journal Article in TIJDSCHRIFT VOOR FERTILITEITSONDERZOEK

Osteogenesis imperfects phenotypes resulting from serine for glycine substitutions in the α2(I) collagen chain

Lieve NuytinckK WettinckM FreundL Van MaldergemG FabryAnne De Paepe

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

1996

Neuropsychological aspects of Marfan syndrome

Engelien LannooAnne De PaepeBart LeroyEvert Thiery

A1 Journal Article in CLINICAL GENETICS

Orofacial and dental aspects of Marfan syndrome

Peter De CosterAnne De PaepeLuc Martens

Refined genetic and physical mapping of BPES type II

Ludwine MessiaenBart LeroySylvia De BieK De PauwNadine Van RoyFranki SpelemanG Van CampAnne De Paepe

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes

Lieve NuytinckRaymond DalgleishLoretta SpotilaJean-Pierre RenardNicole Van RegemorterAnne De Paepe

A1 Journal Article in HUMAN GENETICS

1995

Abnormal morphology of fibrillin microfibrils in fibroblast-cultures from patients with neonatal Marfan-Syndrome

M GODFREYM RAGHUNATHJ CISLERCL BEVINSAnne De PaepeM DIROCCOJ GREGORITCHK IMAIZUMIP KAPLANY KUROKI et al.

A1 Journal Article in AMERICAN JOURNAL OF PATHOLOGY

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype

Bart LeroyLudwine MessiaenNadine Van RoyFranki SpelemanAnne De Paepe

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family

Bart LeroyH VermeerschFranki SpelemanNadine Van RoyL MessiaenAnne De Paepe

Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

Jean-Marie NaeyaertLieve NuytinckSylvia De BieHilde BeeleAndré KintAnne De Paepe

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Linkage: a primer for dermatologists

Sylvia De BieAnne De Paepe

A2 Journal Article in Eur. J. Dermatol., 5, 653-658

Substitution of valine for glycine-793 in type-III procollagen in Ehlers-Danlos syndrome type-IV

Gerard TrompAnne De PaepeLieve NuytinckSwarna MadhatheriHelena Kuivaniemi

A1 Journal Article in HUMAN MUTATION

1994

Abnormal fibrillin morphology in fibroblast cultures from patients with neonatal Marfan syndrome

M GodfreyM RaghunathJ CislerCL BevinsAnne De PaepeJ GregoritchK ImaizumiP KaplanY KurokiM Silberbach et al.

A1 Journal Article in JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Classification of pseudoxanthoma elasticum : report of a consensus conference

M LebwohlK NeldnerFM PopeAnne De PaepeAM ChristianoCD BoydJ UittoVA MC Kusick

Editorial material

Fibromuscular dysplasia of the arteries: an arterial occlusive disease with severe neurological complications at young age

MN VAN THIENENAnne De PaepeFrançoise MeireP PARIZELE VAN MARCKMarleen PraetJG LEROJ DUMON

A4 Journal Article in Dysmorphology and genetics of cardiovascular disorders. Ed. Christos S. Bartsokas, P. Beighton, Athens, pp. 306-31 0

Mutations in the gene for collagen type III: phenotypic spectrum and genotype-phenotype correlation

Anne De PaepeL NUYTINCKJuliaan Leroy

Prenatale diagnose : zal mijn baby gezond zijn?

A4 Journal Article in TIJDSCHRIFT KVLV

Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine-1009 to valine and causes severe Ehlers-Danlos syndrome type-IV

Lieve NuytinckAnne De PaepeJean-Pierre RenardFilip AdriaensJuliaan Leroy

A1 Journal Article in HUMAN MUTATION

Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

Katrina MackayAnne De PaepeLieve NuytinckRaymond Dalgleish

A1 Journal Article in HUMAN MUTATION

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical glycine 502 serine substitutions in the α2 chain of type I collagen

NJ RoseK MacKayAnne De PaepeB SteinmannHH PunnettR Dalgleish

A1 Journal Article in HUMAN GENETICS

1993

Kinderen met afwijkingen van de harde tandweefsels : de erfelijke bindweefselstoornissen

Peter De CosterAnne De PaepeLuc Martens

Osteoporosis-pseudoglioma syndrome

Anne De PaepeJuliaan LeroyLieve NuytinckFrançoise MeireJan Capoen

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Substitution of Gly-1OO9 for valine : further evidence that mutations close to the C-terminal end of the helix produce a severe EDS IV phenotype

Lieve NuytinckJean-Piere RenardAnne De Paepe

Substitution of glycine-1009 for serine in collagen type-III: further evidence that mutations close to the C-terminal end of the helix produce a severe EDS IV phenotype

J LeroyLieve NuytinckJean-Piere RenardAnne De Paepe

The Lujan syndrome or mental retardation with marfanoid habitus: the challenge of adequate nosological definition

Juliaan LeroyGeert MortierCA De BrandtKA LoggheAnne De Paepe

The osteoporosis pseudoglioma syndrome

J CapoenAnne De PaepeHugo Lauwers

A4 Journal Article in JOURNAL BELGE DE RADIOLOGIE (1924) = BELGISCH TIJDSCHRIFT VOOR RADIOLOGIE (1924)

1992

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV

Lieve NuytinckP NarcisiA NichollsJean-Pierre RenardFM PopeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

BV NusgensC Verellen-DumoulinT Hermanns-LêAnne De PaepeLieve NuytinckGE PiérardCM Lapière

A1 Journal Article in NATURE GENETICS

Familial Turner syndrome

M-R Verschraegen-SpaeHerman DepypereFranki SpelemanMarc DhontAnne De Paepe

A1 Journal Article in CLINICAL GENETICS

Genetic counseling of a couple presenting respectively terminal transverse defect and congenital arthrogryposis

Anne De PaepeS De Bie

A2 Journal Article in GENETIC COUNSELING

Moleculaire biologie voor de internist: toepassingen in de genetica

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Molecular cytogenetic analysis of XX males using Y-specific DNA-sequences, including SRY

B Van der AuweraNadine Van RoyAnne De PaepeJR HawkinsI LiebaersS CastedoJ DumonFranki Speleman

A1 Journal Article in HUMAN GENETICS

Molecular nosology of heritable disorders of connective tissue

P BeightonAnne De PaepeJ HallD HollisterF PopeR PyeritzP Tsipouras

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Orofacial symptoms in the Marfan syndrome

Peter De CosterAnne De PaepeLuc Martens

Study of a type III collagen protein defect in a patient with ecchymotic EDS: importance of the analysis of non-cutaneous connective tissues

Anne De PaepeL NUYTINCKA NICHOLLSP NARCISIJ DE ROOSEM MATTON

1991

De ovariële functie bij het Turner syndroom

Herman DepypereAnne De PaepeMR Verschraegen-SpaeFranki SpelemanMarc DhontDirk Vandekerckhove

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization

Franki SpelemanJuliaan LeroyNadine Van RoyAnne De PaepeR SuukerbuukJ BrunnerL LooijengaM Verschraegen-SpaeE Orye

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families

Anne De PaepeD ViljaanM MattonP BeightonV LenaertsK VossaertS De BieD VoetJean DelaeyAndré Kint

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Actualité génétique et pédiatrie: 'Les collagénoses: nouvelles concep tions' et 'L'étude du collagène sur culture de fibroblastes: implications cliniques', samenvatting lezingen, pp. 33-60, pp. 91-110,1994.

Congenital bowing of long bones: a retrospective feature in a dominant syndromal type of shorte stature. Chapter 23 in 'Dysmorphology and Genetics of Cardiovascular Disorders', Bartsocas CS, Beighton P, Eds., HTA Medical Publications, Athens, 1994, pp. 158-165.

JG LEROYGR MORTIERAnn OostraL NUYTINCKAnne De PaepeMargarita CraenJ VAN DER EYKEN

Diagnosis and prevention of inherited disorders of collagen. Hoofdstuk voor het boek 'Linee guida assistenziali nel bambino con patologia malformativa e metabolica', Gruppo di Studio di Genetica Clinica délia Società di Pediatria, Editor: E. Boni' oli, M.E. Lorenzetti, Volume III, 1998.

E.C. Concerted Action on Heritable Connective Tissue Disorders. Proc. ICHG, Washington, 10 oktober 1991, Abstract 354, p. 72.

Anne De PaepeM MATTON

Ehlers-Danlos-Syndrom Typ IV. Fortschritte der praktischen Dermatologie und Venerologie. Editors: Plewig G., Wolff H., pg. 610-612, Springer Verlag, 1999.

T JANSENH WOLFFAnne De PaepeG PLEWIG

Exclusion of the gene for type III collagen as the candidate gene for intracranial aneurysms and cervical artery dissections. DNA sequencing of 55 unrelated patients reveals that type III collagen coding sequences are highly conserved. Neurology 1993 ,43, 2652-2658.

H KUIVANIEMIDJ PROCKOPY WUSL MADHATHERIJJ KLEINERT EARLEYA JOKINENC STOLLEK MAJAMAAV MYLLYLAO NORRGARD et al.

Heritable Connective Tissue Disorders. Hoofdstuk voor het boek 'Ballière's Clinical Paediatrics, International Practice and Research', Vol. 6 Nr. 2, Genetics for the Clinician, Editor: R.C.M. Hennekam, Baillière Tindall, 1998.

Het syndroom van Marfan. Roussel diagnose, 295,1994.

Klinische Genetica. Een medische tak in volle expansie. Hoofdstuk voor het boek 'Het Medisch Jaar' (editie 1998), 1997.

Bart LoeysSylvia De BieAnne De Paepe

Les constituants de la matrice extra-cellulaire du cartillage et de l'os. Proceed. 8ième journée du Club de Conseil Génétique de Langue Française, 1993, pp. 7-9.

Substitution of Gly 769 by serine in collagen type III in a three generation family showing variable expressivity of EDS type IV. Proceed. 5th Internat. Conference on osteogenesis imperfecta, 1993, pp. 114-115.

Anne De PaepeL NUYTINCKK WETTINCKJuliaan Leroy

The lethal form of osteogenesis imperfecta in three individuals results from a common Gly 502 to serine mutation in the a2 chain of type I collagen. Proceed. 5th Internat. Conference on osteogenesis imperfecta, 1993, pp. 65-67.

NJ ROSEK MCKAYAnne De PaepeP STEINMANNR DALGLEISH