Research Explorer

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Researcher

Bart Loeys

Publications & Research Data

Awards & Distinctions

155 Results

2023

A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variation

Lotte Van Den HeuvelSilke PeetersJosephina MeesterMelanie PerikPaul CouckeBart Loeys

A1 Journal Article in STEM CELL RESEARCH

Genome-wide epistasis for cardiovascular severity in Marfan study design : patient organization driven research

Lotte Van Den HeuvelJosephina (Jeannette) MeesterSilke PeetersRomain AlderweireldtAline VerstraetenPaul CouckeBart Loeys

2019

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

2017

Arterial tortuosity syndrome : 40 new families and literature review

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

2016

Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia

Nikhita Ajit BolarChristelle GolzioMartina ŽivnáGaëlle HayotCHRISTINE VAN HEMELRIJKDorien SchepersGeert VandeweyerAlexander HoischenJeroen R HuygheAnn Raes et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2015

Joubert syndrome in three siblings

Martine KF DocxBart LoeysHeidi HoebenMark HelbertJohan Vande Walle

Joubert syndrome in three siblings

Martine DocxBart LoeysJohan Vande Walle

Marfan syndrome

Filip VanhoenackerAnnemie SnoeckxBart Loeys

Bookchapter in Musculoskeletal imaging

2014

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Julien ThevenonPatrick CallierHélène PoquetIben BacheBjörn MentenValérie MalanMaria Luigia CavaliereJean-Paul GirodChristel Thauvin-RobinetSalima El Chehadeh et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

Atenolol versus losartan in children and young adults with Marfan's syndrome

RV LacroHC DietzLA SleeperAT YetmanTJ BradleySD ColanGD PearsonES Selamet TierneyJC LevineAM Atz et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

Paul RamaekersBart LoeysCatharina von LowtzowHeiko ReutterYves LeroyCécile ColpaertBettina BlaumeiserKatrien JanssensMaxim ParizelYves Jacquemyn

A1 Journal Article in BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Longitudinal follow-up of ascending versus abdominal aortic aneurysm formation in angiotensin II-infused ApoE -/- mice

Bram TrachetMarjolijn RenardCarole Van der DoncktSteven DeleyeJoris BolsGuido RY De MeyerSteven StaelensBart LoeysPatrick Segers

A2 Journal Article in ARTERY RESEARCH

Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome

Ronald V LacroHarry C DietzLynn A SleeperAnji T YetmanTimothy J BradleySteven D ColanGail D PearsonElif S Selamet TierneyJami C LevineAndrew M Atz et al.

2013

A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates

Arnaud VanlanderClaudia WillbrechtNikhita Ajit BolarJoél SmetBoel De PaepeElien De LatterLut Van LaerBart LoeysRoland LillRudy Van Coster

Aortic hemodynamics and their role in aneurysm location: can mice provide more insight?

Bram TrachetStefaan VandenbergheBart LoeysPatrick Segers

Bookchapter in Aortic aneurysms : risk factors, diagnosis, surgery and repair

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Ronald V LacroLin T GueyHarry C DietzGail D PearsonAnji T YetmanBruce D GelbBart LoeysD Woodrow BensonTimothy J BradleyJulie De Backer et al.

A1 Journal Article in AMERICAN HEART JOURNAL

Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene

L VallaeysStephanie Van BiervlietG De BruynBart LoeysAS MoringE Van DeynseL Cornette

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Filomeen HaerynckJM Mahachie JohnKristel Van SteenPetra SchelstraeteSabine Van daeleBart LoeysMira Van ThielenI De CanckLieve NuytinckFrans De Baets

A1 Journal Article in HUMAN IMMUNOLOGY

Lessons learned from the intersection of two frequent monogenic disorders : the Marfan syndrome and autosomal dominant polycystic kidney disease

Dorien SchepersStéphanie DautricourtLauranne De DeckerAnn RaesLut Van LaerBart Loeys

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

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit BolarArnaud VanlanderClaudia WilbrechtNathalie Van der AaJoél SmetBoel De PaepeGeert VandeweyerFrank KooyFrançois EyskensElien De Latter et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy

N Ajit BolarArnaud VanlanderC WilbrechtNathalie Van der AaJoél SmetBoel De PaepeG VandeweyerF KooyFrançois EyskensElien De Latter et al.

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

2012

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Sarah VergultAndrew DauberBARBARA DELLE CHIAIEElke Van OudenhoveMarleen SimonAli RihaniBart LoeysJoel HirschhornJean PfotenhauerJohn A Phillips et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Genetic variations in toll-like receptor pathway and lung function decline in cystic fibrosis patients

Filomeen HaerynckKristel Van SteenJM JohnPetra SchelstraeteSabine Van daeleBart LoeysM Van ThielenI De CanckFrans De Baets

Hemodynamics in ascending and abdominal aorta aneurysm formation in the ApoE -/- angiotensin II mouse model

Bram TrachetMarjolijn RenardJoris BolsSteven StaelensBart LoeysPatrick Segers

Nasal speech in patients with 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetAgne LiedénBritt-Marie AnderlidFreddie SharkeyShelagh JossGeert MortierBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Polymorphisms in the lectin pathway genes as a possible cause of early chronic Pseudomonas aeruginosa colonization in cystic fibrosis patients

Filomeen HaerynckKristel Van SteenT CattaertBart LoeysSabine Van daelePetra SchelstraeteKathleen ClaesM Van ThielenI De CanckJM Mahachie John et al.

A1 Journal Article in HUMAN IMMUNOLOGY

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

The role of disturbed hemodynamics in aneurysm formation in mice

Bram TrachetPatrick SegersBart Loeys

2011

A longitudinal study in ApoE mice comparing baseline hemodynamics to endstage aneurysm location in a mouse-specific way

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerLuca AntigaBart LoeysPatrick Segers

A quantitative comparison between baseline hemodynamics and endstage aneurysm formation in apoE -/- mice

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerBart LoeysPatrick Segers

An integrated framework to quantitatively link mouse-specific hemodynamics to aneurysm formation in angiotensin II-infused ApoE -/- mice

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerLuca AntigaBart LoeysPatrick Segers

A1 Journal Article in ANNALS OF BIOMEDICAL ENGINEERING

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

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

EFEMP2-related cutis laxa

Bart LoeysAnne De PaepeZsolt Urban

Bookchapter in GeneReviews®

Is AAA formation influenced by abdominal aortic hemodynamics?: a follow-up study in mice

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerLuca AntigaBart LoeysPatrick Segers

Is there a role for hemodynamics in AAA formation? A longitudinal in-vivo study in ApoE -/- mice

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerBart LoeysPatrick Segers

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetAgne LiedénBritt-Marie AnderlidFreddie SharkeyShelagh JossGeert MortierBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiedénBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiédenBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiedénBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

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

Patienten-spezifisches Modell der Wandschubspannung von Aortenbogen

Bram TrachetDaniel DevosJulie De BackerAnne De PaepeBart LoeysPatrick Segers

A4 Journal Article in COMPUTER AIDED MEDICAL ENGINEERING

Replacing vascular corrosion casting by in-vivo micro-CT imaging for building 3D cardiovascular models in mice

Bert VandeghinsteBram TrachetMarjolijn RenardChristophe CasteleynSteven StaelensBart LoeysPatrick SegersStefaan Vandenberghe

A1 Journal Article in MOLECULAR IMAGING AND BIOLOGY

The impact of simplified boundary conditions and aortic arch inclusion on CFD simulations in the mouse aorta: a comparison with mouse-specific reference data

Bram TrachetJoris BolsGianluca De SantisStefaan VandenbergheBart LoeysPatrick Segers

A1 Journal Article in JOURNAL OF BIOMECHANICAL ENGINEERING-TRANSACTIONS OF THE ASME

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

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

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 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

Comparative aspects of non-invasive assessment of cardiovascular function in human and mouse by high-frequency ultrasound

Bram TrachetMarjolijn RenardAbigail SwillensJulie De BackerBart LoeysPatrick Segers

Comparison between vascular corrosion casting and in vivo micro-CT imaging for wall shear stress calculations in the mouse aorta

Bram TrachetBert VandeghinsteMarjolijn RenardChristophe CasteleynSteven StaelensBart LoeysPatrick SegersStefaan Vandenberghe

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Hilde Van EschElisabeth M RosserSandra JanssensIngrid Van IngelghemBart LoeysBjörn Menten

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Expanding the phenotype of sudden cardiac death: an unusual presentation of a family with a Lamin A/C mutation

Julie De BackerKATARINA VAN BEEUMENBart LoeysMattias Duytschaever

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1

D MitterBARBARA DELLE CHIAIEHJ LudeckeG Gillessen-KaesbachA BohringJ KohlhaseA CaliebeR SiebertA RopkeMA Ramos-Arroyo et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Inherited elastinopathies: novel clinical and etiopathogenetic insights

Bert CallewaertAnne De PaepeBart Loeys

Investigating the role of hemodynamics in AAA formation through combined imaging and modelling: a longitudonal in vivo study in apoE mice

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerBart LoeysPatrick Segers

Investigating the role of hemodynamics in AAA formation using an apoe -/- mouse model

Bram TrachetMarjolijn RenardGianluca De SantisSteven StaelensJulie De BackerBart LoeysPatrick Segers

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

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

S SaalL FaivreB AralN GigotA ToutainL Van MaldergemA DestreeI MaystadtJP CosynsPS Jouk et al.

A1 Journal Article in CLINICAL GENETICS

Resolving in-vivo flow fields in the systemic circulation of the mouse through combined ultrasound imaging and computational fluid dynamics

Bram TrachetAbigail SwillensMarjolijn RenardJulie De BackerSteven StaelensBart LoeysPatrick Segers

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 Loeys-Dietz syndrome: an update for the clinician

CHRISTINE VAN HEMELRIJKMarjolijn RenardBart Loeys

A1 Journal Article in CURRENT OPINION IN CARDIOLOGY

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

Vascular corrosion casting vs in vivo micro-CT casting : what is the effect on wall shear stress calculations in the mouse aorta?

Bram TrachetBert VandeghinsteMarjolijn RenardChristophe CasteleynSteven StaelensBart LoeysStefaan VandenberghePatrick Segers

2009

A missence mutation in complement factor I associated with recurrent aseptic meningoencephalitis

Joke DehoorneFilomeen HaerynckBart LoeysHelene VerhelstF MascartAnn RaesJohan Vande Walle

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

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

Karen BuysseBARBARA DELLE CHIAIERudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Circulating Transforming Growth Factor-beta in Marfan Syndrome

P MattF SchoenhoffJ HabashiT HolmC Van ErpD LochOD CarlsonBF GriswoldQ FuJulie De Backer et al.

A1 Journal Article in CIRCULATION

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

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

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

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Wenke SeifertMuriel Holder-EspinasseJirko KühnischKimia KahriziAndreas TzschachMasoud GarshasbiHossein NajambadiAndreas Walter KussWolfram KressGenevieve Laureys et al.

A1 Journal Article in HUMAN MUTATION

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

EK BijlsmaACJ GijsbersJHM Schuurs-HoeijmakersA van HaeringenDEF van de PutteBM AnderlidJ LundinP LapunzinaLAP JuradoBARBARA DELLE CHIAIE et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

BWM van BonHC MeffordBjörn MentenDA KoolenAJ SharpWM NillesenJW InnisTJL de RavelCL MercerM Fichera et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality (vol 30, pg E618, 2009)

D BornholdtF OeffnerA KonigR HappleY AlanayJ AschermanPJ BenkeMD BoenteI van der BurgtN Chassaing et al.

Replacing vascular corrosion casting by in-vivo µCT imaging for building 3D cardiovascular models in mice

Bert VandeghinsteBram TrachetMarjolijn RenardChristophe CasteleynSteven DeleyePhilippe JoyeStefaan VandenbergheSteven StaelensPatrick SegersBart Loeys

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

Bram TrachetAbigail SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

A1 Journal Article in COMPUTER METHODS IN BIOMECHANICS AND BIOMEDICAL ENGINEERING

Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen BuysseF AntonacciBert CallewaertBart LoeysUlrike FränkelVictoria SiuGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

2008

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

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

Benjamin S. BrookeJennifer P. HabashiDaniel P. JudgeNishant PatelBart LoeysHarry C. Dietz

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

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

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

Ehlers-Danios syndromes and Marfan syndrome

Bert CallewaertFransiska MalfaitBart LoeysAnne De Paepe

A1 Journal Article in BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Identification of copy number variants associated with BPES-like phenotypes

ACJ GijsbersBarbara D'haeneY Hilhorst-HofsteeM MannensB AlbrechtJ SeidelDR WittMK MaisenbacherBart LoeysT van Essen et al.

A1 Journal Article in HUMAN 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

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

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation working group on research in Marfan syndrome and related disorders

Gail D. PearsonRichard DevereuxBart LoeysCheryl MaslenDianna MilewiczReed PyeritzFrancesco RamirezDaniel RifkinLynn SakaiLars Svensson et al.

A1 Journal Article in CIRCULATION

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

Bram TrachetAbigail SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

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

Bram TrachetAbigail SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

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

Bram TrachetAbigail SwillensDenis Van LooChristophe CasteleynAnne De PaepeBart LoeysPatrick Segers

2007

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states (vol 12, pg 204, 2007)

RD COHNC VAN ERPJP HABASHIAA SOLEIMANIEC KLEINMT LISIM GAMRADTCM AP RHYSTM HOLMBart Loeys et al.

Arteriële tortuositeit door fout in glucosetransporter

Anne De PaepePaul CouckeBart Loeys

A4 Journal Article in Agenda voor de Cardiologie

Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease

JA WILLIAMSBart LoeysLU NWAKANMAHC DIETZPJ SPEVAKND PATELKatrien FrancoisJulie De BackerVL GOTTLA VRICELLA et al.

A1 Journal Article in ANNALS OF THORACIC SURGERY

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

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

ML LOSCALZODLM GOHBart LoeysKC KENTPJ SPEVAKHC DIETZ

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loeys-Dietz syndrome: MDCT angiography findings

PT JOHNSONJK CHENBart LoeysHC DIETZEK FISHMAN

A1 Journal Article in AMERICAN JOURNAL OF ROENTGENOLOGY

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation

MA DEARDORFFM KAURD YAEGERA RAMPURIAS KOROLEVJ PIEC GIL-RODRIGUEZM ARNEDOBart LoeysAD KLINE et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome

Kristiane Van LierdeGeert MortierBart LoeysNele BaudonckSophia De LeyLuc MarksJohn Van Borsel

A1 Journal Article in INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

The Loeys-Dietz syndrome

Bart LoeysHC DIETZ

Editorial material

The PDAC syndrome (Pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

D CHITAYATH SROKAS KEATINGRS COLBYG RYANA TOIS BLASERS VIEROL DEVISMEO BOUTE-BENEJEAN et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Aneurysm syndromes caused by mutations in the TGF-β receptor

Bart LoeysUlrike SchwarzeTammy HolmBert CallewaertGeorge H. ThomasHariyadarshi PannuJulie De BackerGretchen L. OswaldSofie SymoensSylvie Manouvrier et al.

U Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

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

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

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

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

2005

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

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

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

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

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

Genotype and phenotype study of inherited defects of the elastic fiber

Bart LoeysAnne De Paepe

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)

Jill YardleyBart LeroyNiki Hart-HoldenBart LafautBart LoeysLudwine MessiaenRahat PerveenM Ashwin ReddyShomi S BhattacharyaElias Traboulsi et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2003

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

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

Aangeboren afwijkingen van het spraakorgaan

Bart LoeysGeert Mortier

Bookchapter in Handboek stem-, spraak- en taalpathologie

Critical appraisal of dose-response ACE-I studies in hypertensive patients

ANNICK FRANCEAnn RaesBart LoeysSara Van AkenJo DehoorneJohan Vande Walle

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

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

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.)

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

R PARVARIE HERSHKOVITZN GROSSMANR GORODISCHERBart LoeysA ZECICGeert MortierS GREGORYR SHARONYM KAMBOURIS et al.

A1 Journal Article in NATURE GENETICS

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

Annick FranceAnn RaesFransiska MalfaitBart LoeysSara Van AkenJo DehoorneJohan Vande Walle

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-Danlos syndrome VII C)

Fransiska MalfaitBart LoeysPeter De CosterAnne De Paepe

2001

A newborn with microphtalmia and pulmonary hypoplasia: Matthew-Wood syndrome confirmed?

Bart LoeysPiet VanhaesebrouckLieve NuytinckGeert Mortier

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Bart LafautBart LoeysBart LeroyW SpileersJean DelaeyPhilippe Kestelyn

A1 Journal Article in GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

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

Bart LoeysPiet HoebekeL MessiaenA De PaepeJohan Vande Walle

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

Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.

A MEGARBANEMM RUCHOUXBart LoeysN AYOUBLieve Nuytinck

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

1999

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Bart LoeysRudy Van CosterLuc DefreyneJuliaan Leroy

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

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

Anne De PaepeBart LoeysK DEVRIENDTJP FRYNS

A1 Journal Article in CLINICAL DYSMORPHOLOGY

The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs.

Bart LoeysMarc LemmerlingCE VAN MOLJuliaan Leroy

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

1998

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

Les enfants énurétiques avec une capacité vesicale petite comme sele signe clinique : pas d'énurésie nocturne monosymptomatique?

Bart LoeysErik Van LaeckePiet HoebekeAnn RaesAnne De PaepeJohan Vande Walle

Rationele aanpak van mictie en continentieproblemen bij kinderen : het Gents model, multidisciplinaire aanpak

Johan Vande WallePiet HoebekeCatherine RensonAnn RaesErik Van LaeckeE VanhoeckeH De PaepeJ VandaeleP HansenBart Loeys

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

Bart LoeysSylvia De BieAnne De Paepe