Research Explorer

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Researcher

Tim Van Damme

41 Results

2022

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

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. Gould et al.

A1 Journal Article in PLOS GENETICS

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

2020

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 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.

2019

Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

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

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

2018

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

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

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

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

Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification

Aude BeyensRiet De RyckeHannes SyrynBjörn Fischer-ZirnsakTim Van DammeIngrid HausserMichiel De BruyneManrico MorroniS NampoothiriK. Mahesh et al.

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

2017

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

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

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

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

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

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

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensPaul CouckeFransiska Malfait

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

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensFransiska Malfait

2015

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

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

Patrick SantensTim Van DammeWouter SteyaertAndy WillaertBernard SablonnièreAnne De PaepePaul CouckeBart Dermaut

A1 Journal Article in NEUROLOGY

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

2014

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

2013

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

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