Research Explorer

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Researcher

Delfien Syx

78 Results

2022

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-LondonoKlaas J WierengaParul JayakarWilliam A GahlCynthia J TifftLuis E FigueraYvonne Hilhorst-HofsteeAlessandra MaugeriKen IshikawaTomoko KobayashiYoko AokiToshihiro OhuraHiroshi KawameMichihiro KonoKosuke MochidaChiho TokorodaniKiyoshi KikkawaTakayuki MorisakiTetsuyuki KobayashiTakaya NakaneAkiharu KuboJudith D RanellsOhsuke MigitaGlenda SobeyAnupriya KaurMasumi IshikawaTomomi YamaguchiNaomichi MatsumotoFransiska MalfaitNoriko MiyakeTomoki Kosho

A1 Journal Article in 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

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. GouldUlrich BaumannHans Peter BachingerFransiska Malfait

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

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

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

Tibbe DhoogeFransiska MalfaitDelfien Syx

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 MigeotteOsama EssawiSerdar CeylanerAdila Al KindyBrad TinkleSofie SymoensFransiska Malfait

A1 Journal Article in HUMAN MUTATION

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

2020

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 MalfaitNaomichi MatsumotoNoriko MiyakeTomoki Kosho

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

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

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 MigeotteOsama EssawiSerdar CeylanerAdila AlkindiBrad TinkleSofie SymoensFransiska Malfait

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. LefeberDelfien SyxWouter SteyaertRiet De RyckeAlexander HoischenErik-Jan KamsteegSunnie Y. WongMonique van ScherpenzeelPayman JamaliUlrich BrandtLeo NijtmansG. Christoph KorenkeBrian H. Y. ChungChristopher C. Y. MakIngrid HausserUwe KornakBjorn Fischer-ZirnsakTim M. StromThomas MeitingerYasemin AlanayGulen E. UtineKai Ching Peter LeungSiavash Ghaderi-SohiPaul CouckeSofie SymoensAnne De PaepeChristian ThielTobias B. HaackFransiska MalfaitEva MoravaBert CallewaertRon A. Wevers

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

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 CouckeGöran LarsonShuhei YamadaAndy WillaertFransiska Malfait

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 CouckeGöran LarsonShuhei YamadaAndy WillaertFransiska Malfait

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 LévyVivien BéziatLei ShangKathryn PayneDanielle T AveryMélanie MigaudSoraya BoucheritSabri BoughorbelAndrea GuennounMaya ChrabiehFranck RapaportBenedetta BigioYuval ItanBertrand BoissonValérie Cormier-DaireDelfien SyxFransiska MalfaitNicoletta ZoppiLaurent AbelTomáš FreibergerHarry C DietzNico MarrStuart G TangyeMarina ColombiJean-Laurent CasanovaAnne Puel

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

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 SyxFransiska MalfaitCristina HasSu M LwinRazieh KaramzadehLu LiuAlyson GuyMohammad HamidAriana KariminejadSirous ZeinaliJohn A McGrathJouni Uitto

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

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah NaessensJulie De ZaeytijdDelfien SyxRoosmarijn VandenbrouckeFrédéric SmeetsCaroline Van CauwenberghBart LeroyFrank PeelmanFrauke Coppieters

A1 Journal Article in HUMAN MUTATION

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

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 KariminejadSheela NampoothiriGenevieve PierquinSaskia BulkAustin A. LarsonKathryn C. ChatfieldMarleen SimonAnne LegrandMarion GerardSofie SymoensSylvie Fournel-GigleuxFransiska Malfait

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

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

Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees

Sarah NaessensDelfien SyxFrank PeelmanRoosmarijn VandenbrouckeSarah De JaegereFrédéric SmeetsJulie De ZaeytijdBart LeroyElfride De BaereFrauke Coppieters

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 MalfaitSofie Symoens

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

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

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Peripheral mechanisms contributing to osteoarthritis pain

Delfien SyxPhuong B. TranRachel E. MillerAnne-Marie Malfait

A1 Journal Article in CURRENT RHEUMATOLOGY REPORTS

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 KeeneYoshihiro IshikawaHans Peter BächingerSophie JanssensMathieu BertrandFransiska Malfait

A1 Journal Article in MATRIX BIOLOGY

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

Sarah DelbaereTim Van DammeDelfien SyxPaul CouckeAnne De PaepeSofie SymoensAndy WillaertFransiska Malfait

2017

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 LefeberDelfien SyxWouter SteyaertRiet De RyckeAlexander HoischenErik-Jan KamsteegSunnie Y WongMonique van ScherpenzeelPayman JamaliUlrich BrandtLeo NijtmansG Christoph KorenkeBrian HY ChungChristopher CY MakIngrid HausserUwe KornakBjörn Fischer-ZirnsakTim M StromThomas MeitingerYasemin AlanayGulen E UtinePeter KC LeungSiavash Ghaderi-SohiPaul CouckeSofie SymoensAnne De PaepeChristian ThielTobias B HaackFransiska MalfaitEva MoravaBert CallewaertRon A Wevers

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Novel translational discovery study of genes and SNPS associated with osteoarthritis pain

R. E. MillerDelfien SyxS. IshiharaR. J. MillerA. M. ValdesA. -M. 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 CouckeSofie Symoens

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

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

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

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 KroesKoen DevriendtMarc ThirySofie SymoensAnne De PaepeFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

Microarray analyses of dorsal root ganglia for the study of pathways contributing to pain in experimental osteoarthritis

Rachel E. MillerShingo IshiharaDelfien SyxRichard J. MillerAna M. ValdesAnne-Marie 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

2015

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

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 BackerPaul WittenSergey LeikinElena MakareevaGabriele Gillessen-KaesbachAnn HuysseuneKris VleminckxAndy WillaertAnne De PaepeJoan C MariniPaul Coucke

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-LêAnne De PaepeFransiska Malfait

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

2014

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 BiervlietGabriele Gillessen-KaesbachJulie De BackerAndy WillaertHans Peter BächingerAnne De PaepeJoan C MariniPaul Coucke

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 SyxRaoul C HennekamLuisa BonafeSheila UngerAndrea Superti-Furga

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke CoppietersKristof Van SchilMiriam BauwensHannah VerdinAnnelies De JaegherDelfien SyxTom SanteSteve LefeverNouha Bouayed AbdelmoulaFanny DepasseIngele CasteelsThomy de RavelFrançoise MeireBart LeroyElfride De Baere

A1 Journal Article in GENETICS IN MEDICINE

2013

Compound heterozygous mutations of the TNXB gene cause primary myopathy

Isabelle Pénisson-BesnierValérie AllamandPhilippe BeurrierLudovic MartinJoost SchalkwijkIvonne van Vlijmen-WillemsCorine GartiouxFransiska MalfaitDelfien SyxLaurent MacchiPascale MarcorellesBrigitte ArbeilleAnne CrouéAnne De PaepeFrédéric Dubas

A1 Journal Article in NEUROMUSCULAR DISORDERS

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 WillaertBita BozorgmehrMohamad Hasan KariminejadNazanin EbrahimiadibIngrid HausserAnn HuysseuneSylvie Fournel-GigleuxAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2012

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

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

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 CouckeFlorence RuggieroAnne De Paepe

A1 Journal Article in BIOCHEMICAL JOURNAL

2010

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

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