Research Explorer

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Researcher

Fransiska Malfait

269 Results

2023

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekDelfien SyxSofie SymoensYannick GansemansFilip Van NieuwerburghSujatha JagadeeshJayarekha Raja et al.

A1 Journal Article in HUMAN GENETICS

Bone parameters in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder : a comparative cross-sectional study

Marie CoussensThiberiu BanicaBruno LapauwInge De WandeleLies RombautFransiska MalfaitPatrick Calders

A1 Journal Article in BONE

Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

Marlies ColmanDelfien SyxInge De WandeleLies RombautDeborah WilleZoë MalfaitMira MeeusAnne-Marie MalfaitJessica Van OosterwijckFransiska Malfait

2022

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

Delfien SyxSarah DelbaereCatherine BuiAdelbert De ClercqGöran LarsonShuji MizumotoTomoki KoshoSylvie Fournel-GigleuxFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Altered multi‐segment ankle and foot kinematics during gait in patients with Hypermobile Ehlers‐Danlos Syndrome/Hypermobility spectrum disorder : a case‐control study

Stefan VermeulenSophie De MitsRoel De RidderPatrick CaldersJoris De SchepperFransiska MalfaitLies Rombaut

A1 Journal Article in ARTHRITIS CARE & RESEARCH

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports

Marlies ColmanMarco CastoriLucia MicaleMarco RitelliMarina ColombiNeeti GhaliFleur Van DijkLuisa MarsiliAdrienne WeeksAnthony Vandersteen et al.

A1 Journal Article in CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Bone mass, density, geometry and stress‐strain index in adults with osteogenesis imperfecta type I, and their associations with physical activity and muscle function parameters

Marie CoussensBruno LapauwCharlotte VerrokenStefan GoemaereInge De WandeleFransiska MalfaitThiberiu BanicaPatrick Calders

U Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari MinatogawaAi UnzakiHiroko MorisakiDelfien SyxTohru SonodaAndreas R JaneckeAnne SlavotinekNicol C VoermansYves LacassieRoberto Mendoza-Londono et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Editorial : molecular mechanisms of heritable connective tissue disorders

Fransiska MalfaitAntonella ForlinoGerhard SengleTom Van Agtmael

Editorial material

Electromyographic muscle activity and three-dimensional scapular kinematics in patients with multidirectional shoulder instability : a study in the hypermobile type of the Ehlers-Danlos syndrome and the hypermobility spectrum disorders

Valentien SpanhovePatrick CaldersKelly BerckmansTanneke PalmansFransiska MalfaitAnn CoolsInge De Wandele

A1 Journal Article in ARTHRITIS CARE & RESEARCH

Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome : a case-control study

Inge De WandeleMarlies ColmanLinda HermansJessica Van OosterwijckMira MeeusLies RombautGRIET BRUSSELMANSDelfien SyxPatrick CaldersFransiska Malfait

A1 Journal Article in EUROPEAN JOURNAL OF PAIN

Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

Thao Tran Thao TranRachel KellerBrecht GuillemynMelanie PepinJane CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie Symoens et al.

Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitBirute BurnyteSheela NampoothiriDelfien SyxFransiska Malfait

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome (vol 187, pg 349, 2021)

Fransiska Malfait

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome

Mahnaz NikpourFredrik NobornJonas NilssonTim Van DammeOlivier KayeDelfien SyxFransiska MalfaitGöran Larson

A2 Journal Article in JIMD REPORTS

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitSofie SymoensBiruté BurnytéSheela NampoothiriAriana KariminejadFransiska MalfaitDelfien Syx

A1 Journal Article in HUMAN MUTATION

Matrisome expression in the dorsal root ganglion

Robin VromanZoë MalfaitRahel HunterAnne-Marie MalfaitFransiska MalfaitDelfien SyxRachel Miller

Muscle strength, muscle mass and physical impairment in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder

Marie CoussensBruno LapauwThiberiu BanicaInge De WandeleVerity PaceyLies RombautFransiska MalfaitPatrick Calders

A1 Journal Article in JOURNAL OF MUSCULOSKELETAL & NEURONAL INTERACTIONS

Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht GuillemynFransiska MalfaitSofie Symoens

Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controls

Stijn De BaetsEllen CruytPatrick CaldersInge De WandeleFransiska MalfaitGuy VanderstraetenGeert Van HoveDominique Van de Velde

A1 Journal Article in PLOS ONE

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Ingrid M.B.H. van de LaarAnnette F. BaasJulie De BackerJan D. BlankensteinEelco DulferApollonia T.J.M. Helderman-van den EndenArjan C. HouwelingMarlies JE. KempersBart LoeysFransiska Malfait et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

Tim Van DammeMarlies ColmanDelfien SyxFransiska Malfait

A1 Journal Article in GENES

The impact of hypermobile 'Ehlers-Danlos syndrome' and hypermobile spectrum disorder on interpersonal interactions and relationships

Stijn De BaetsMarieke De TemmermanPatrick CaldersFransiska MalfaitGeert Van HoveGuy VanderstraetenInge De WandeleDominique Van de Velde

A2 Journal Article in FRONTIERS IN REHABILITATION SCIENCES

2021

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Delfien SyxYoshihiro IshikawaJan GebauerSergei P. BoudkoBrecht GuillemynTim Van DammeSanne D'hondtSofie SymoensSheela NampoothiriDouglas B. Gould et al.

A1 Journal Article in PLOS GENETICS

Animal models of Ehlers–Danlos syndromes : phenotype, pathogenesis, and translational potential

Robin VromanAnne-Marie MalfaitRachel MillerFransiska MalfaitDelfien Syx

A1 Journal Article in FRONTIERS IN GENETICS

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Thao T. TranRachel B. KellerBrecht GuillemynMelanie PepinJane E. CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie Symoens et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Tibbe DhoogeDelfien SyxTrinh Hermanns-LêIngrid HausserGeert MortierJonathan ZonanaSofie SymoensPeter H. ByersFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome

Marlies ColmanDelfien SyxInge De WandeleTibbe DhoogeSofie SymoensFransiska Malfait

A1 Journal Article in HUMAN MUTATION

Collagens in the physiopathology of the Ehlers–Danlos Syndromes

Fransiska MalfaitRobin VromanMarlies ColmanDelfien Syx

Bookchapter in The collagen superfamily and collagenopathies

Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study

Marie CoussensPatrick CaldersBruno LapauwBert CelieThiberiu BanicaInge De WandeleV PaceyFransiska MalfaitLies Rombaut

A1 Journal Article in ARTHRITIS CARE & RESEARCH

Exploring collagen-related disorders : beyond the typical clinical and molecular spectrum

Tibbe DhoogeFransiska MalfaitDelfien Syx

Four decades in the making : collagen III and mechanisms of vascular Ehlers Danlos Syndrome

Ramla OmarFransiska MalfaitTom Van Agtmael

A2 Journal Article in MATRIX BIOLOGY PLUS

Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitB. BurnytéS. NampoothiriA. KariminejadDelfien SyxFransiska Malfait

Heritable connective tissue disorders in childhood : increased fatigue, pain, disability and decreased general health

Jessica Warnink-KavelaarsLisanne E. de KoningLies RombautMattijs W. AlsemLeonie A. MenkeJaap OosterlaanI Buizer, AnnemiekeRaoul H. H. EngelbertMarieke J. H. BaarsRosa de Boer et al.

A1 Journal Article in GENES

Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

Loss of TANGO1 leads to absence of bone mineralization

Brecht GuillemynSheela NampoothiriDelfien SyxFransiska MalfaitSofie Symoens

A2 Journal Article in JBMR PLUS

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe DhoogeTim Van DammeDelfien SyxLaura Muiño MosqueraSheela NampoothiriAnil RadhakrishnanPelin O. Simsek-KiperGulen E. UtineMaryse BonduelleIsabelle Migeotte et al.

A1 Journal Article in HUMAN MUTATION

Muscle activity and scapular kinematics in individuals with multidirectional shoulder instability : a systematic review

Valentien SpanhoveMatthias Van DaeleAäron Van den AbeeleLies RombautBirgit CasteleinPatrick CaldersFransiska MalfaitAnn CoolsInge De Wandele

A1 Journal Article in ANNALS OF PHYSICAL AND REHABILITATION MEDICINE

Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges

Fransiska MalfaitMarlies ColmanRobin VromanInge De WandeleLies RombautRachel E. MillerAnne-Marie MalfaitDelfien Syx

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

Patient perspectives on employment participation in the 'hypermobile Ehlers-Danlos syndrome'

Stijn De BaetsPatrick CaldersLiesbeth VerhoostMarieke CoussensInge De WandeleFransiska MalfaitGuy VanderstraetenGeert Van HoveDominique Van de Velde

A1 Journal Article in DISABILITY AND REHABILITATION

Shoulder instability in patients with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders : biomechanical behavior and the value of exercise therapy

Valentien SpanhoveAnn CoolsPatrick CaldersFransiska Malfait

The impact of COVID-19 on rare and complex connective tissue diseases : the experience of ERN ReCONNET

Rosaria TalaricoSilvia AguileraTobias AlexanderZahir AmouraAna M. AntunesLaurent ArnaudTadej AvcinLorenzo BerettaStefano BombardieriGerd R. Burmester et al.

A1 Journal Article in NATURE REVIEWS RHEUMATOLOGY

2020

COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Silvia MorlinoLucia MicaleMarco RitelliMarianne RohrbachNicoletta ZoppiAnthony VandersteenSara MackayEmanuele AgoliniDario CocciadiferroErina Sasaki et al.

A1 Journal Article in CLINICAL GENETICS

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Charlotte K. LautrupKeng W. TeikAi UnzakiShuji MizumotoDelfien SyxHeng H. SinIrene K. NielsenSara MarkholtShuhei YamadaFransiska Malfait et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Fishing for pathogenic mechanisms underlying rare Ehlers-Danlos syndrome subtypes

Sarah DelbaereFransiska MalfaitAndy Willaert

Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study

Thiberiu BanicaMarie CoussensCharlotte VerrokenPatrick CaldersInge De WandeleFransiska MalfaitHans-Georg ZmierczakStefan GoemaereBruno LapauwLies Rombaut

A1 Journal Article in OSTEOPOROSIS INTERNATIONAL

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensPaul CouckeAndy WillaertFransiska Malfait

A1 Journal Article in MATRIX BIOLOGY

Lack of bone mineralization in a TANGO1 deficient patient

Brecht GuillemynS. NampoothiriO. ForestiI. RaoteV. MalhotraFransiska MalfaitSofie Symoens

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe DhoogeTim Van DammeDelfien SyxLaura Muiño MosqueraSheela NampoothiriAnil RadhakrishnanPelin Simsek-KiperGülen Eda UtineMaryse BonduelleIsabelle Migeotte et al.

More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5

Tibbe DhoogeTim Van DammeDelfien SyxSofie SymoensFransiska Malfait

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.

New insights on the clinical variability of FKBP10 mutations

Osama EssawiPiyanoot TapaneeyaphanSofie SymoensCharlotte GistelinckFransiska MalfaitDavid EyreTamer EssawiBert CallewaertPaul Coucke

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestréeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome

Delfien SyxRachel E. MillerAlia M. ObeidatPhuong B. TranRobin VromanZoë MalfaitRichard J. MillerFransiska MalfaitAnne-Marie Malfait

A1 Journal Article in PAIN

Participation in people with the Ehlers-Danlos syndromes and hypermobility spectrum disorders

Stijn De BaetsDominique Van de VeldePatrick CaldersFransiska Malfait

Physical activity and sleep in patients with hypermobile Ehlers–Danlos syndrome and patients with generalized hypermobility spectrum disorder

Marie CoussensInge De WandeleVerity PaceyFransiska MalfaitMarieke De CraemerHeleen DemeyerLies RombautPatrick Calders

A2 Journal Article in EDORIUM JOURNAL OF DISABILITY AND REHABILITATION

The Ehlers-Danlos syndromes

Fransiska MalfaitMarco CastoriClair A. FrancomanoCecilia GiuntaTomoki KoshoPeter H. Byers

A1 Journal Article in NATURE REVIEWS DISEASE PRIMERS

The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) with multidirectional shoulder instability : an observational study

Valentien SpanhoveInge De WandeleKjær Birgitte HougsFransiska MalfaitFran VanderstukkenAnn Cools

A1 Journal Article in PHYSIOTHERAPY

b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

Sarah DelbaereAdelbert De ClercqShuji MizumotoFredrik NobornJan Willem BekLien AlluynCharlotte GistelinckDelfien SyxPhil L. SalmonPaul Coucke et al.

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

Sarah DelbaereAdelbert De ClercqShuji MizumotoFredrik NobornJan Willem BekLien AlluynCharlotte GistelinckDelfien SyxPhil L. SalmonPaul Coucke et al.

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

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

Juan LiMarco RitelliCindy S MaGeetha RaoTanwir HabibEmilie CorvilainSalim BougarnSophie CypowyjLucie GrodeckáRomain Lévy et al.

A1 Journal Article in SCIENCE IMMUNOLOGY

Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.

Marlies ColmanInge De WandeleTibbe DhoogeSofie SymoensDelfien SyxFransiska Malfait

Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

Marlies ColmanTim Van DammeElisabeth Steichen - GersdorfFranco LacconeSheela NampoothiriDelfien SyxBrecht GuillemynSofie SymoensFransiska Malfait

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestreeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

Identification of unmet needs related to rare and complex connective tissue and musculoskeletal diseases (RCTDS) across EU : the experience of the ERN ReCONNET

Diana MarinelloSimone TicciatiRosaria TalaricoTobias AlexanderLaurent ArnaudLorenzo CavagnaLorenzo BerettaBenjamin ChaigneAlain CornetNathalie Costedoat-Chalumeau et al.

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Hassan VahidnezhadLeila YoussefianAmir Hossein SaeidianAndrew TouatiSara PajouhanfarTaghi BaghdadiAzam Ahmadi ShadmehriCecilia GiuntaMarius KraenzlinDelfien Syx et al.

A1 Journal Article in MATRIX BIOLOGY

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta

Sheela NampoothiriBrecht GuillemynNursel ElciogluSujatha JagadeeshDhanya YesodharanBeena SureshSerap TuranSofie SymoensFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Tim Van DammeFransiska MalfaitAnne De Paepe

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Marlies ColmanTim Van DammeElisabeth Steichen-GersdorfFranco LacconeSheela NampoothiriDelfien SyxBrecht GuillemynSofie SymoensFransiska Malfait

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph Panzer et al.

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

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Tim Van DammeXiaomeng PangBrecht GuillemynSandrine GulbertiDelfien SyxRiet De RyckeOlivier KayeChristine E. M. de Die-SmuldersRolph PfundtAriana Kariminejad et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Classic Ehlers-Danlos syndrome

Fransiska MalfaitRichard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

Clinical practice guidelines : the first year of activity of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET)

Marta MoscaMaurizio CutoloBombardieri StefanoFonseca Joao EuricoFrank CharissaGaletti IlariaHachulla EricHoussiau FredericMueller-Ladner UlfSchneider Matthias et al.

Editorial material

Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families

Sarah DelbaereTibbe DhoogeDelfien SyxSofie SymoensFransiska Malfait

Ehlers-Danlos syndromes : state of the art on clinical practice guidelines

Alberto SulliRosaria TalaricoCarlo Alberto ScirèTadej AvcinMarco CastoriAlessandro FerrarisCharissa FrankJürgen GrunertSabrina PaolinoStefano Bombardieri et al.

A1 Journal Article in RMD OPEN

Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Fishing for the missing link : successful translation of a human disorder in zebrafish

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

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.

Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

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

Updating the evidence on functional capacity evaluation methods : a systematic review

Stijn De BaetsPatrick CaldersNoortje SchalleyKatrien VermeulenSofie VertriestLien Van PeteghemMarieke CoussensFransiska MalfaitGuy VanderstraetenGeert Van Hove et al.

A1 Journal Article in JOURNAL OF OCCUPATIONAL REHABILITATION

Updating the evidence on functionale capacity evaluation : a systematic review

Stijn De BaetsNoortje SchalleyKatrien VermeulenSofie VertriestLien Van PeteghemMarieke CoussensFransiska MalfaitGuy VanderstraetenGeert Van HovePATRICK DE BAETS et al.

Vascular aspects of the Ehlers-Danlos syndromes

Fransiska Malfait

A1 Journal Article in MATRIX BIOLOGY

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review

Sanne D'hondtTim Van DammeFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

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 framework for the classification of joint hypermobility and related conditions

Marco CastoriBrad TinkleHoward LevyRodney GrahameFransiska MalfaitAlan Hakim

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

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Annelot BaertJulie DepuydtTom Van MaerkenBruce PoppeFransiska MalfaitTim Van DammeSylvia De NobeleGianpaolo PerlettiKim De LeeneerKathleen Claes et al.

A1 Journal Article in ONCOLOGY REPORTS

Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

Ariana KariminejadFariba AfroozanBita BozorgmehrAlireza GhanadanSusan AkbaroghliHamid Reza Khorram KhorshidFaezeh MojahediAria SetoodehAbigail LohYu Xuan Tan et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ehlers-Danlos syndrome, classical type

Jessica M BowenGlenda J SobeyNigel P BurrowsMarina ColombiMark E LavalleeFransiska MalfaitClair A Francomano

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

Foot kinematics in the hypermobility type of Ehlers-Danlos syndrome using the Ghent Foot Model

Sophie De MitsPatrick CaldersFransiska MalfaitLies Rombaut

Hypermobility, the Ehlers-Danlos syndromes and chronic pain

Delfien SyxInge De WandeleLies RombautFransiska Malfait

A1 Journal Article in CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Identification of a novel COL1A1 mutation associated with Caffey disease

Tibbe DhoogeDelfien SyxGeert MortierDagmar WieczorekSheila UngerAndreas ZanklToni HospachSofie SymoensFransiska Malfait

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

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Yaqun ZouSandra DonkervoortAntti M SaloA Reghan FoleyAileen M BarnesYing HuElena MakareevaMeganne E LeachPayam MohasselJahannaz Dastgir et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

The Ehlers-Danlos syndromes, rare types

Angela F BradySerwet DemirdasSylvie Fournel-GigleuxNeeti GhaliCecilia GiuntaInes Kapferer-SeebacherTomoki KoshoRoberto Mendoza-LondonoMichael F PopeMarianne Rohrbach et al.

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

The International Consortium on the Ehlers-Danlos Syndromes

Lara BloomPeter ByersClair FrancomanoBrad TinkleFransiska Malfait

Editorial material

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome : the impact of proprioception

Mark ScheperLies RombautJanneke de VriesInge De WandeleMartin van der EschBart VisserFransiska MalfaitPatrick CaldersRaoul Engelbert

A1 Journal Article in DISABILITY AND REHABILITATION

The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood : a phenomenological, hermeneutical study

Stijn De BaetsMarieke VanhalstMarieke CoussensLies RombautFransiska MalfaitGeert Van HovePatrick CaldersGuy VanderstraetenDominique Van de Velde

A1 Journal Article in RESEARCH IN DEVELOPMENTAL DISABILITIES

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

Type III collagen : a major fibrillar collagen with major issues

Sanne D'hondtFransiska MalfaitMathieu BertrandSophie Janssens

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

Sanne D'hondtBrecht GuillemynSofie SymoensRiet De RyckeYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

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.

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensAndy WillaertFransiska Malfait

2016

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

Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients

Frederic AckeFreya SwinnenFransiska MalfaitIngeborg DhoogeEls De Leenheer

A1 Journal Article in EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Cephalometrics in Stickler syndrome : objectification of the typical facial appearance

Frederic AckeIngeborg DhoogeFransiska MalfaitEls De LeenheerGuy De Pauw

A1 Journal Article in JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

Differential expression of type III collagen in male and female mice

Sanne D'hondtBrecht GuillemynSofie SymoensYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

Evaluation of the role of germline RECQL variants in Belgian patients referred for genetic testing in the context of familial breast/ovarian cancer

Greet WiemeIlse CoeneLiselotte VergoteBruce PoppeFransiska MalfaitTom Van MaerkenKim De LeeneerKathleen Claes

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

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Annelot BaertJulie DepuydtTom Van MaerkenBruce PoppeFransiska MalfaitKatrien StormJenneke van den EndeTim Van DammeSylvia De NobeleGianpaolo Perletti et al.

A1 Journal Article in BREAST CANCER RESEARCH

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

Stickler syndrome: comprehensive clinical and molecular analysis

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

The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study

Stijn De BaetsMarieke VanhalstMarieke CoussensLies RombautFransiska MalfaitGeert Van HovePatrick CaldersGuy VanderstraetenDominique Van de Velde

The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study

Stijn De BaetsMarieke VanhalstMarieke CoussensLies RombautFransiska MalfaitGeert Van HovePatrick CaldersGuy VanderstraetenDominique Van de Velde

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

Sanne D'hondtBrecht GuillemynSofie SymoensRiet De RyckeYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

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

Sanne D'hondtBrecht GuillemynSofie SymoensRiet De RyckeYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

Y RIN2 syndrome : expanding the clinical phenotype

Simonetta RosatoDelfien SyxIvan IvanovskiMarzia PollazzonDaniela SantodiroccoLoredana De MarcoMarina BeltramiBert CallewaertLivia GaravelliFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensPaul CouckeFransiska Malfait

2015

A rare case of polycarpyly in a patient with Ellis-van Creveld syndrome: plain film findings and additional value of MRI

Marc MespreuveFilip VanhoenackerFransiska MalfaitD MortierG Mertens

A zebrafish model for Bruck syndrome caused by PLOD2 mutations

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

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

Pascal SimoensCharlotte GistelinckSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia

Lies RombautMark ScheperInge De WandeleJanneke De VriesMira MeeusFransiska MalfaitRaoul EngelbertPatrick Calders

A1 Journal Article in CLINICAL RHEUMATOLOGY

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

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

Further delineation of the auditory phenotype in Stickler syndrome

Frederic AckeFreya SwinnenFransiska MalfaitIngeborg DhoogeEls De Leenheer

Further delineation of the auditory phenotype in Stickler syndrome

Frederic AckeFreya SwinnenFransiska MalfaitIngeborg DhoogeEls De Leenheer

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

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

Postaxial polydactyly type A in a patient with Ellis-van Creveld syndrome: additional value of MR imaging

Marc MespreuveFilip VanhoenackerFransiska MalfaitD MortierG Mertens

The G2 micronucleus-assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 mutation

Annelot BaertJulie DepuydtBruce PoppeTom Van MaerkenFransiska MalfaitTim Van DammeSylvia De NobeleKim De LeeneerKathleen ClaesAnne Vral

The genetics of soft connective tissue disorders

Olivier VanakkerBert CallewaertFransiska MalfaitPaul Coucke

A1 Journal Article in Annual Review of Genomics and Human Genetics

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.

2014

A zebrafish model for Bruck Syndrome caused by PLOD2 mutations

Andy WillaertCharlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

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

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia

Lies RombautMark ScheperInge De WandeleJanneke de VriesMira MeeusFransiska MalfaitRaoul EngelbertPatrick Calders

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

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.

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

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

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

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

Osteogenesis imperfecta: meer dan alleen collageen?

Michaël Vanden BulckeSofie SymoensFransiska MalfaitAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

Thomas WiesmannMarco CastoriFransiska MalfaitHinnerk Wulf

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

Ariana KariminejadBita BozorgmehrAbdolhamid NajafiAtefeh KhoshaeenMaryam GhalandariHossein NajmabadiMohamad Hasan KariminejadOlivier VanakkerMohammad Jakir HosenFransiska Malfait et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKATHLEEN DE WAELEInge François et al.

The Ehlers-Danlos syndrome

Fransiska MalfaitAnne De Paepe

A1 Journal Article in ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY

The G2 micronucleus assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 or BRCA2 mutation

Annelot BaertJulie DepuydtBruce PoppeTom Van MaerkenFransiska MalfaitTim Van DammeSylvia De NobeleKim De LeeneerKathleen ClaesAnne Vral

The G2-micronucleus assay for the detection of in vitro chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers

Annelot BaertJulie DepuydtBruce PoppeTom Van MaerkenFransiska MalfaitTim Van DammeKim De LeeneerKathleen ClaesAnne Vral

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

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

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

Clinical utility gene card for: osteogenesis imperfecta

Fleur van DijkRaymond DalgleishFransiska MalfaitAlessandra MaugeriAgnieszka RusinskaOliver SemlerSofie SymoensGerard Pals

Editorial material

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

Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer

Anne VralJulie DepuydtAnnelot BaertBruce PoppeTom Van MaerkenFransiska MalfaitKim De LeeneerMarc D'HoogheKathleen Claes

Disorders of connective tissue and extracellular matrix

Fransiska MalfaitAnne De Paepe

Bookchapter in Hemostatis and thrombosis : basic principles and clinical practice

Ehlers-Danlos Syndrome

Fransiska MalfaitAnne De Paepe

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

Hearing impairment in Stickler syndrome: a systematic review

Frederic AckeIngeborg DhoogeFransiska MalfaitEls De Leenheer

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

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

Sequence alterations in the carboxyl-terminal propeptide domain

Fransiska MalfaitSofie SymoensAnne De Paepe

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

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

2012

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

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.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur van DijkPeter ByersRaymond DalgleishFransiska MalfaitAlessandra MaugeriMarianne RohrbachSofie SymoensErik SistermansGerard Pals

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Hearing impairment in Stickler syndrome: a systematic review

Frederic AckeIngeborg DhoogeFransiska MalfaitEls De Leenheer

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Het Ehlers-Danlossyndroom, een aandoening met vele gezichten

Fransiska MalfaitAnne De Paepe

A4 Journal Article in PERCENTIEL (NEDERLANDSE ED.)

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

Joris De SchepperSabine VerscheldeFransiska MalfaitAnne De PaepePatrick CaldersLies Rombaut

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

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

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

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

De genetische raadpleging: waarom doorverwijzen ?

Fransiska MalfaitAnne De Paepe

Ehlers-Danlos syndrome, classic type

Fransiska MalfaitRichard WenstrupAnne De Paepe

Bookchapter in GeneReviews®

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

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

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

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

Inge De WandeleLies RombautFransiska MalfaitAnne De PaepePatrick Calders

Reply to the letter to the editor by Marc Williams

Fransiska MalfaitRichard J WenstrupAnne De Paepe

A1 Journal Article in GENETICS IN MEDICINE

Spier- en gewrichtsproblemen bij het hypermobiele type van het Ehlers-Danlos syndroom

Lies RombautFransiska MalfaitPatrick Calders

A2 Journal Article in ORTHO-RHEUMATO

2010

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

Fransiska MalfaitRichard J WenstrupAnne De Paepe

A1 Journal Article in GENETICS IN MEDICINE

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

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

Lies RombautFransiska MalfaitAnne De PaepeInge De WandelePatrick Calders

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

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

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

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

Vascular haemostasis

NS KeyAnne De PaepeFransiska MalfaitCL Shovlin

A1 Journal Article in HAEMOPHILIA

2009

A review of the ADAMTS family, pharmaceutical targets of the future

Micky D TortorellaFransiska MalfaitRuteja A BarveHuey-Sheng ShiehAnne-Marie Malfait

A1 Journal Article in CURRENT PHARMACEUTICAL DESIGN

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

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

Lies RombautAnne De PaepeFransiska MalfaitAnn CoolsPatrick Calders

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

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

Fransiska MalfaitAndy WillaertSofie SymoensPaul CouckeAnne De Paepe

Ehlers-Danios syndromes and Marfan syndrome

Bert CallewaertFransiska MalfaitBart LoeysAnne De Paepe

A1 Journal Article in BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

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

2007

Lisinopril in paediatric medicine: a retrospective chart review of long-term treatment in children

Ann RaesFransiska MalfaitSara Van AkenANNICK FRANCERaymond AMG DonckerwolckeJohan Vande Walle

A1 Journal Article in JOURNAL OF THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM

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

2006

The genetic basis of the joint hypermobility syndromes

Fransiska MalfaitAJ HAKIMAnne De PaepeR GRAHAME

A1 Journal Article in RHEUMATOLOGY

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

2005

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

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

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

2004

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

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

Ehlers-Danlos syndrome

Fransiska MalfaitPaul CouckeAnne De Paepe

Bookchapter in Encyclopedia of medical genomics and proteomics

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

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

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

2003

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

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

2002

Proximal tubular hypertrophy during long-term follow-up of children for unilateral Wilm's tumor

Fransiska MalfaitEls VandecruysCatharina DhoogeAnn RaesYves BenoitJohan Vande Walle

Rationalised ACE inhibition (ACE-I) dosing in non-hypertensive children

Annick FranceAnn RaesFransiska MalfaitBart LoeysSara Van AkenJo DehoorneJohan Vande Walle

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

Fransiska MalfaitBart LoeysPeter De CosterAnne De Paepe

1999

The αE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells

Stefan VermeulenFriedel NolletE TEUGELSKM VENNEKENSFransiska MalfaitJan PhilippéFranki SpelemanMarc BrackeFrans Van RoyMarcus Mareel

A1 Journal Article in ONCOGENE