Research Explorer

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Researcher

Marlies Colman

18 Results

2023

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

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

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

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

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

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

Tim Van DammeMarlies ColmanDelfien SyxFransiska Malfait

A1 Journal Article in GENES

2021

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

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

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

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

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

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

Identifying a pain signature in Ehlers-Danlos syndrome : a clinical research protocol

Marlies ColmanInge De WandeleSophie Van OosterwijckJessica Van Oosterwijck

2019

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

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

Marlies ColmanInge De WandeleTibbe DhoogeSofie SymoensDelfien SyxFransiska Malfait

Ehlers-Danlos Syndrome : fading boundaries

Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

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

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