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Researcher
Fransiska Malfait
Profile
Projects
Publications
Activities
Awards & Distinctions
294
Results
2024
Classic Ehlers-Danlos syndrome
Fransiska Malfait
Sofie Symoens
Delfien Syx
Bookchapter
in
GeneReviews®
2024
Exploring the role of the extracellular matrix in pain using Ehlers-Danlos Syndromes as a model
Robin Vroman
Fransiska Malfait
Delfien Syx
Anne-Marie Malfait
Dissertation
2024
Flemish network on rare connective tissue diseases (CTD) : patient pathways in systemic sclerosis : first steps taken
Yves Piette
Freek Van den Bossche
J. Aerts
N. Aerts
S. Ajeganova
V. Badot
N. Berghen
D. Blockmans
Guy Brusselle
N. Caeyers
et al.
A1
Journal Article
in
ACTA CLINICA BELGICA
2024
Impaired muscle parameters in adults with mild to severe types of osteogenesis imperfecta : a cross-sectional study
Marie Coussens
Bruno Lapauw
Inge De Wandele
Fransiska Malfait
Natasha C Pocovi
Verity Pacey
Patrick Calders
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2024
Reduced capsaicin-induced mechanical allodynia and neuronal responses in the dorsal root ganglion in the presence of protein tyrosine phosphatase non-receptor type 6 overexpression
Robin Vroman
Shingo Ishihara
Spencer Fullam
Matthew J Wood
Natalie S Adamczyk
Nolan Lomeli
Fransiska Malfait
Anne-Marie Malfait
Rachel E Miller
Adrienn Markovics
A1
Journal Article
in
MOLECULAR PAIN
2024
When the phenotype is more severe than expected : coexistence of X-linked and dominant ichthyosis in an African patient
Kim van Berkel
Nathalie Vanden Eynde
Sophie Golstein
Ann Van Den Bogaert
Boyan Dimitrov
Sophie Lecomte
Fransiska Malfait
Joelle Rabinowitch
C3
Conference
2024
2023
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
Tamara Jarayseh
Brecht Guillemyn
Hanna De Saffel
Jan Willem Bek
Delfien Syx
Sofie Symoens
Yannick Gansemans
Filip Van Nieuwerburgh
Sujatha Jagadeesh
Jayarekha Raja
et al.
A1
Journal Article
in
HUMAN GENETICS
2023
Analysis of matrisome expression patterns in murine and human dorsal root ganglia
Robin Vroman
Rahel S. Hunter
Matthew J. Wood
Olivia C. Davis
Zoë Malfait
Dale S. George
Dongjun Ren
Diana Tavares-Ferreira
Theodore J. Price
Richard J. Miller
et al.
A1
Journal Article
in
FRONTIERS IN MOLECULAR NEUROSCIENCE
2023
Bone parameters in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder : a comparative cross-sectional study
Marie Coussens
Thiberiu Banica
Bruno Lapauw
Inge De Wandele
Lies Rombaut
Fransiska Malfait
Patrick Calders
A1
Journal Article
in
BONE
2023
Home-based exercise therapy for treating shoulder instability in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders : a randomized trial
Valentien Spanhove
Inge De Wandele
Fransiska Malfait
Patrick Calders
Ann Cools
A1
Journal Article
in
DISABILITY AND REHABILITATION
2023
Muscle and bone parameters in individuals with Hypermobile Ehlers-Danlos Syndrome, Hypermobility Spectrum Disorder and Osteogenesis Imperfecta
Marie Coussens
Patrick Calders
Fransiska Malfait
Lies Rombaut
Dissertation
2023
NRF2 shortage in human skin fibroblasts dysregulates matrisome gene expression and affects collagen fibrillogenesis
Mélanie Salamito
Benjamin Gillet
Delfien Syx
Elisabeth Vaganay
Marilyne Malbouyres
Catherine Cerutti
Nicolas Tissot
Chloé Exbrayat-Héritier
Philippe Perez
Christophe Jones
et al.
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2023
Sensory profiling in classical Ehlers-Danlos syndrome : a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
Marlies Colman
Delfien Syx
Inge De Wandele
Lies Rombaut
Deborah Wille
Zoë Malfait
Mira Meeus
Anne-Marie Malfait
Jessica Van Oosterwijck
Fransiska Malfait
Preprint
2023
Sensory profiling in classical Ehlers-Danlos syndrome : a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
Marlies Colman
Delfien Syx
Inge De Wandele
Lies Rombaut
Deborah Wille
Zoë Malfait
Mira Meeus
Anne-Marie Malfait
Jessica Van Oosterwijck
Fransiska Malfait
A1
Journal Article
in
JOURNAL OF PAIN
2023
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders
Lisanne de Koning
Jessica A. Warnink-Kavelaars
Marion van Rossum
Diederik A. Bosman
Leonie Menke
Fransiska Malfait
Rosa de Boer
Jaap Oosterlaan
Raoul H. H. Engelbert
Lies Rombaut
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2023
Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
Brecht Guillemyn
Hanna De Saffel
Jan Willem Bek
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Tamara Jarayseh
Sophie Debaenst
Andy Willaert
Riet De Rycke
Peter H. Byers
et al.
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2023
Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development
Brecht Guillemyn
Hanna De Saffel
Jan Willem Bek
Piyanoot Tapaneeyaphan
Adelbert De Clercq
Tamara Jarayseh
Sophie Debaenst
Andy Willaert
Peter Byers
Paul Coucke
et al.
C3
Conference
2023
The Ehlers-Danlos syndromes
Marlies Colman
Anne De Paepe
Fransiska Malfait
Bookchapter
in
A clinician's pearls and myths in rheumatology
2023
Unexplored clinical and molecular consequences of the Ehlers-Danlos syndromes
Marlies Colman
Fransiska Malfait
Delfien Syx
Jessica Van Oosterwijck
Dissertation
2023
2022
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
Tamara Jarayseh
Brecht Guillemyn
Hanna De Saffel
Jan Willem Bek
Sujatha Jagadeesh
Sofie Symoens
Fransiska Malfait
Delfien Syx
Filip Van Nieuwerburgh
Yannick Gansemans
et al.
C3
Conference
2022
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
Tamara Jarayseh
Brecht Guillemyn
Hanna De Saffel
Jan Willem Bek
Sujatha Jagadeesh
Sofie Symoens
Fransiska Malfait
Delfien Syx
Filip Van Nieuwerburgh
Yannick Gansemans
et al.
C3
Conference
2022
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
Delfien Syx
Sarah Delbaere
Catherine Bui
Adelbert De Clercq
Göran Larson
Shuji Mizumoto
Tomoki Kosho
Sylvie Fournel-Gigleux
Fransiska Malfait
A1
Journal Article
in
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
2022
Altered multi‐segment ankle and foot kinematics during gait in patients with Hypermobile Ehlers‐Danlos Syndrome/Hypermobility spectrum disorder : a case‐control study
Stefan Vermeulen
Sophie De Mits
Roel De Ridder
Patrick Calders
Joris De Schepper
Fransiska Malfait
Lies Rombaut
A1
Journal Article
in
ARTHRITIS CARE & RESEARCH
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 Colman
Marco Castori
Lucia Micale
Marco Ritelli
Marina Colombi
Neeti Ghali
Fleur Van Dijk
Luisa Marsili
Adrienne Weeks
Anthony Vandersteen
et al.
A1
Journal Article
in
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
2022
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 Coussens
Bruno Lapauw
Charlotte Verroken
Stefan Goemaere
Inge De Wandele
Fransiska Malfait
Thiberiu Banica
Patrick Calders
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2022
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Mari Minatogawa
Ai Unzaki
Hiroko Morisaki
Delfien Syx
Tohru Sonoda
Andreas R Janecke
Anne Slavotinek
Nicol C Voermans
Yves Lacassie
Roberto Mendoza-Londono
et al.
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2022
Editorial : molecular mechanisms of heritable connective tissue disorders
Fransiska Malfait
Antonella Forlino
Gerhard Sengle
Tom Van Agtmael
Editorial material
2022
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 Spanhove
Patrick Calders
Kelly Berckmans
Tanneke Palmans
Fransiska Malfait
Ann Cools
Inge De Wandele
A1
Journal Article
in
ARTHRITIS CARE & RESEARCH
2022
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome : a case-control study
Inge De Wandele
Marlies Colman
Linda Hermans
Jessica Van Oosterwijck
Mira Meeus
Lies Rombaut
GRIET BRUSSELMANS
Delfien Syx
Patrick Calders
Fransiska Malfait
A1
Journal Article
in
EUROPEAN JOURNAL OF PAIN
2022
Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
Thao Tran Thao Tran
Rachel Keller
Brecht Guillemyn
Melanie Pepin
Jane Corteville
Samir Khatib
Mohammad-Sadegh Fallah
Sirous Zeinali
Fransiska Malfait
Sofie Symoens
et al.
C3
Conference
2022
Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
Marlies Colman
Robin Vroman
Tibbe Dhooge
Zoë Malfait
Birute Burnyte
Sheela Nampoothiri
Delfien Syx
Fransiska Malfait
C3
Conference
2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome
Mahnaz Nikpour
Fredrik Noborn
Jonas Nilsson
Tim Van Damme
Olivier Kaye
Delfien Syx
Fransiska Malfait
Göran Larson
A2
Journal Article
in
JIMD REPORTS
2022
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
Marlies Colman
Robin Vroman
Tibbe Dhooge
Zoë Malfait
Sofie Symoens
Biruté Burnyté
Sheela Nampoothiri
Ariana Kariminejad
Fransiska Malfait
Delfien Syx
A1
Journal Article
in
HUMAN MUTATION
2022
Matrisome expression in the dorsal root ganglion
Robin Vroman
Zoë Malfait
Rahel Hunter
Anne-Marie Malfait
Fransiska Malfait
Delfien Syx
Rachel Miller
C3
Conference
2022
Muscle strength, muscle mass and physical impairment in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder
Marie Coussens
Bruno Lapauw
Thiberiu Banica
Inge De Wandele
Verity Pacey
Lies Rombaut
Fransiska Malfait
Patrick Calders
A1
Journal Article
in
JOURNAL OF MUSCULOSKELETAL & NEURONAL INTERACTIONS
2022
Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
Brecht Guillemyn
Fransiska Malfait
Sofie Symoens
Dissertation
2022
Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controls
Stijn De Baets
Ellen Cruyt
Patrick Calders
Inge De Wandele
Fransiska Malfait
Guy Vanderstraeten
Geert Van Hove
Dominique Van de Velde
A1
Journal Article
in
PLOS ONE
2022
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
Ingrid M.B.H. van de Laar
Annette F. Baas
Julie De Backer
Jan D. Blankenstein
Eelco Dulfer
Apollonia T.J.M. Helderman-van den Enden
Arjan C. Houweling
Marlies JE. Kempers
Bart Loeys
Fransiska Malfait
et al.
A1
Journal Article
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2022
The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism
Tim Van Damme
Marlies Colman
Delfien Syx
Fransiska Malfait
A1
Journal Article
in
GENES
2022
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases : insights after the first 5 years of the ERN ReCONNET
Rosaria Talarico
Silvia Aguilera
Tobias Alexander
Zahir Amoura
Janette Andersen
Laurent Arnaud
Tadej Avcin
Sara Marsal Barril
Lorenzo Beretta
Stefano Bombardieri
et al.
A1
Journal Article
in
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
2022
The impact of hypermobile 'Ehlers-Danlos syndrome' and hypermobile spectrum disorder on interpersonal interactions and relationships
Stijn De Baets
Marieke De Temmerman
Patrick Calders
Fransiska Malfait
Geert Van Hove
Guy Vanderstraeten
Inge De Wandele
Dominique Van de Velde
A2
Journal Article
in
FRONTIERS IN REHABILITATION SCIENCES
2022
2021
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
Delfien Syx
Yoshihiro Ishikawa
Jan Gebauer
Sergei P. Boudko
Brecht Guillemyn
Tim Van Damme
Sanne D'hondt
Sofie Symoens
Sheela Nampoothiri
Douglas B. Gould
et al.
A1
Journal Article
in
PLOS GENETICS
2021
Animal models of Ehlers–Danlos syndromes : phenotype, pathogenesis, and translational potential
Robin Vroman
Anne-Marie Malfait
Rachel Miller
Fransiska Malfait
Delfien Syx
A1
Journal Article
in
FRONTIERS IN GENETICS
2021
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Thao T. Tran
Rachel B. Keller
Brecht Guillemyn
Melanie Pepin
Jane E. Corteville
Samir Khatib
Mohammad-Sadegh Fallah
Sirous Zeinali
Fransiska Malfait
Sofie Symoens
et al.
A2
Journal Article
in
HUMAN GENETICS AND GENOMICS ADVANCES
2021
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
Tibbe Dhooge
Delfien Syx
Trinh Hermanns-Lê
Ingrid Hausser
Geert Mortier
Jonathan Zonana
Sofie Symoens
Peter H. Byers
Fransiska Malfait
A1
Journal Article
in
GENETICS IN MEDICINE
2021
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome
Marlies Colman
Delfien Syx
Inge De Wandele
Tibbe Dhooge
Sofie Symoens
Fransiska Malfait
A1
Journal Article
in
HUMAN MUTATION
2021
Collagens in the physiopathology of the Ehlers–Danlos Syndromes
Fransiska Malfait
Robin Vroman
Marlies Colman
Delfien Syx
Bookchapter
in
The collagen superfamily and collagenopathies
2021
Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study
Marie Coussens
Patrick Calders
Bruno Lapauw
Bert Celie
Thiberiu Banica
Inge De Wandele
V Pacey
Fransiska Malfait
Lies Rombaut
A1
Journal Article
in
ARTHRITIS CARE & RESEARCH
2021
Exploring collagen-related disorders : beyond the typical clinical and molecular spectrum
Tibbe Dhooge
Fransiska Malfait
Delfien Syx
Dissertation
2021
Four decades in the making : collagen III and mechanisms of vascular Ehlers Danlos Syndrome
Ramla Omar
Fransiska Malfait
Tom Van Agtmael
A2
Journal Article
in
MATRIX BIOLOGY PLUS
2021
Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
Marlies Colman
Robin Vroman
Tibbe Dhooge
Zoë Malfait
B. Burnyté
S. Nampoothiri
A. Kariminejad
Delfien Syx
Fransiska Malfait
C3
Conference
2021
Heritable connective tissue disorders in childhood : increased fatigue, pain, disability and decreased general health
Jessica Warnink-Kavelaars
Lisanne E. de Koning
Lies Rombaut
Mattijs W. Alsem
Leonie A. Menke
Jaap Oosterlaan
I Buizer, Annemieke
Raoul H. H. Engelbert
Marieke J. H. Baars
Rosa de Boer
et al.
A1
Journal Article
in
GENES
2021
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
Marlies Colman
Machteld Baetens
Olivier Vanakker
Bert Callewaert
Delfien Syx
Fransiska Malfait
C3
Conference
2021
Loss of TANGO1 leads to absence of bone mineralization
Brecht Guillemyn
Sheela Nampoothiri
Delfien Syx
Fransiska Malfait
Sofie Symoens
A2
Journal Article
in
JBMR PLUS
2021
More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Tibbe Dhooge
Tim Van Damme
Delfien Syx
Laura Muiño Mosquera
Sheela Nampoothiri
Anil Radhakrishnan
Pelin O. Simsek-Kiper
Gulen E. Utine
Maryse Bonduelle
Isabelle Migeotte
et al.
A1
Journal Article
in
HUMAN MUTATION
2021
Muscle activity and scapular kinematics in individuals with multidirectional shoulder instability : a systematic review
Valentien Spanhove
Matthias Van Daele
Aäron Van den Abeele
Lies Rombaut
Birgit Castelein
Patrick Calders
Fransiska Malfait
Ann Cools
Inge De Wandele
A1
Journal Article
in
ANNALS OF PHYSICAL AND REHABILITATION MEDICINE
2021
Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges
Fransiska Malfait
Marlies Colman
Robin Vroman
Inge De Wandele
Lies Rombaut
Rachel E. Miller
Anne-Marie Malfait
Delfien Syx
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2021
Patient perspectives on employment participation in the 'hypermobile Ehlers-Danlos syndrome'
Stijn De Baets
Patrick Calders
Liesbeth Verhoost
Marieke Coussens
Inge De Wandele
Fransiska Malfait
Guy Vanderstraeten
Geert Van Hove
Dominique Van de Velde
A1
Journal Article
in
DISABILITY AND REHABILITATION
2021
Shoulder instability in patients with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders : biomechanical behavior and the value of exercise therapy
Valentien Spanhove
Ann Cools
Patrick Calders
Fransiska Malfait
Dissertation
2021
The impact of COVID-19 on rare and complex connective tissue diseases : the experience of ERN ReCONNET
Rosaria Talarico
Silvia Aguilera
Tobias Alexander
Zahir Amoura
Ana M. Antunes
Laurent Arnaud
Tadej Avcin
Lorenzo Beretta
Stefano Bombardieri
Gerd R. Burmester
et al.
A1
Journal Article
in
NATURE REVIEWS RHEUMATOLOGY
2021
2020
COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
Silvia Morlino
Lucia Micale
Marco Ritelli
Marianne Rohrbach
Nicoletta Zoppi
Anthony Vandersteen
Sara Mackay
Emanuele Agolini
Dario Cocciadiferro
Erina Sasaki
et al.
A1
Journal Article
in
CLINICAL GENETICS
2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
Charlotte K. Lautrup
Keng W. Teik
Ai Unzaki
Shuji Mizumoto
Delfien Syx
Heng H. Sin
Irene K. Nielsen
Sara Markholt
Shuhei Yamada
Fransiska Malfait
et al.
A1
Journal Article
in
MOLECULAR GENETICS & GENOMIC MEDICINE
2020
Fishing for pathogenic mechanisms underlying rare Ehlers-Danlos syndrome subtypes
Sarah Delbaere
Fransiska Malfait
Andy Willaert
Dissertation
2020
Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study
Thiberiu Banica
Marie Coussens
Charlotte Verroken
Patrick Calders
Inge De Wandele
Fransiska Malfait
Hans-Georg Zmierczak
Stefan Goemaere
Bruno Lapauw
Lies Rombaut
A1
Journal Article
in
OSTEOPOROSIS INTERNATIONAL
2020
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Delfien Syx
Sofie Symoens
Paul Coucke
Andy Willaert
Fransiska Malfait
A1
Journal Article
in
MATRIX BIOLOGY
2020
Lack of bone mineralization in a TANGO1 deficient patient
Brecht Guillemyn
S. Nampoothiri
O. Foresti
I. Raote
V. Malhotra
Fransiska Malfait
Sofie Symoens
C3
Conference
2020
More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Tibbe Dhooge
Tim Van Damme
Delfien Syx
Laura Muiño Mosquera
Sheela Nampoothiri
Anil Radhakrishnan
Pelin Simsek-Kiper
Gülen Eda Utine
Maryse Bonduelle
Isabelle Migeotte
et al.
Preprint
2020
More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5
Tibbe Dhooge
Tim Van Damme
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2020
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
Tim Van Damme
Thatjana Gardeitchik
Miski Mohamed
Sergio Guerrero-Castillo
Peter Freisinger
Brecht Guillemyn
Ariana Kariminejad
Daisy Dalloyaux
Sanne van Kraaij
Dirk J. Lefeber
et al.
Correction
2020
New insights on the clinical variability of FKBP10 mutations
Osama Essawi
Piyanoot Tapaneeyaphan
Sofie Symoens
Charlotte Gistelinck
Fransiska Malfait
David Eyre
Tamer Essawi
Bert Callewaert
Paul Coucke
A1
Journal Article
in
EUROPEAN JOURNAL OF MEDICAL GENETICS
2020
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 Delbaere
Tibbe Dhooge
Delfien Syx
Florence Petit
Nathalie Goemans
Anne Destrée
Olivier Vanakker
Riet De Rycke
Sofie Symoens
Fransiska Malfait
A1
Journal Article
in
GENETICS IN MEDICINE
2020
Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome
Delfien Syx
Rachel E. Miller
Alia M. Obeidat
Phuong B. Tran
Robin Vroman
Zoë Malfait
Richard J. Miller
Fransiska Malfait
Anne-Marie Malfait
A1
Journal Article
in
PAIN
2020
Participation in people with the Ehlers-Danlos syndromes and hypermobility spectrum disorders
Stijn De Baets
Dominique Van de Velde
Patrick Calders
Fransiska Malfait
Dissertation
2020
Physical activity and sleep in patients with hypermobile Ehlers–Danlos syndrome and patients with generalized hypermobility spectrum disorder
Marie Coussens
Inge De Wandele
Verity Pacey
Fransiska Malfait
Marieke De Craemer
Heleen Demeyer
Lies Rombaut
Patrick Calders
A2
Journal Article
in
EDORIUM JOURNAL OF DISABILITY AND REHABILITATION
2020
The Ehlers-Danlos syndromes
Fransiska Malfait
Marco Castori
Clair A. Francomano
Cecilia Giunta
Tomoki Kosho
Peter H. Byers
A1
Journal Article
in
NATURE REVIEWS DISEASE PRIMERS
2020
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 Spanhove
Inge De Wandele
Kjær Birgitte Hougs
Fransiska Malfait
Fran Vanderstukken
Ann Cools
A1
Journal Article
in
PHYSIOTHERAPY
2020
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
Sarah Delbaere
Adelbert De Clercq
Shuji Mizumoto
Fredrik Noborn
Jan Willem Bek
Lien Alluyn
Charlotte Gistelinck
Delfien Syx
Phil L. Salmon
Paul Coucke
et al.
A1
Journal Article
in
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
2020
b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
Sarah Delbaere
Adelbert De Clercq
Shuji Mizumoto
Fredrik Noborn
Jan Willem Bek
Lien Alluyn
Charlotte Gistelinck
Delfien Syx
Phil L. Salmon
Paul Coucke
et al.
Preprint
2020
2019
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
Brecht Guillemyn
Hülya Kayserili
Lynn Demuynck
Patrick Sips
Anne De Paepe
Delfien Syx
Paul Coucke
Fransiska Malfait
Sofie Symoens
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2019
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
Delfien Syx
Inge De Wandele
Sofie Symoens
Riet De Rycke
Olivier Hougrand
Nicol Voermans
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2019
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
Juan Li
Marco Ritelli
Cindy S Ma
Geetha Rao
Tanwir Habib
Emilie Corvilain
Salim Bougarn
Sophie Cypowyj
Lucie Grodecká
Romain Lévy
et al.
A1
Journal Article
in
SCIENCE IMMUNOLOGY
2019
Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.
Marlies Colman
Inge De Wandele
Tibbe Dhooge
Sofie Symoens
Delfien Syx
Fransiska Malfait
C3
Conference
2019
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy
Marlies Colman
Tim Van Damme
Elisabeth Steichen - Gersdorf
Franco Laccone
Sheela Nampoothiri
Delfien Syx
Brecht Guillemyn
Sofie Symoens
Fransiska Malfait
C3
Conference
2019
Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
Sarah Delbaere
Tibbe Dhooge
Delfien Syx
Florence Petit
Nathalie Goemans
Anne Destree
Olivier Vanakker
Riet De Rycke
Sofie Symoens
Fransiska Malfait
C3
Conference
2019
Identification of unmet needs related to rare and complex connective tissue and musculoskeletal diseases (RCTDS) across EU : the experience of the ERN ReCONNET
Diana Marinello
Simone Ticciati
Rosaria Talarico
Tobias Alexander
Laurent Arnaud
Lorenzo Cavagna
Lorenzo Beretta
Benjamin Chaigne
Alain Cornet
Nathalie Costedoat-Chalumeau
et al.
C3
Conference
2019
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
Sarah Delbaere
Andy Willaert
Phil L Salmon
Paul Coucke
Fransiska Malfait
C3
Conference
2019
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 Vahidnezhad
Leila Youssefian
Amir Hossein Saeidian
Andrew Touati
Sara Pajouhanfar
Taghi Baghdadi
Azam Ahmadi Shadmehri
Cecilia Giunta
Marius Kraenzlin
Delfien Syx
et al.
A1
Journal Article
in
MATRIX BIOLOGY
2019
Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
Tibbe Dhooge
Sarah Delbaere
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2019
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum
Tibbe Dhooge
Sarah Delbaere
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2019
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 Dhooge
Sarah Delbaere
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2019
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
Sheela Nampoothiri
Brecht Guillemyn
Nursel Elcioglu
Sujatha Jagadeesh
Dhanya Yesodharan
Beena Suresh
Serap Turan
Sofie Symoens
Fransiska Malfait
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2019
The Ehlers-Danlos syndromes : expanding, redefining and reviewing the spectrum
Tim Van Damme
Fransiska Malfait
Anne De Paepe
Dissertation
2019
The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review
Marlies Colman
Tim Van Damme
Elisabeth Steichen-Gersdorf
Franco Laccone
Sheela Nampoothiri
Delfien Syx
Brecht Guillemyn
Sofie Symoens
Fransiska Malfait
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2019
Two novel probands with Myhre syndrome identified through WES
Ilse Meerschaut
Aude Beyens
Wouter Steyaert
Riet De Rycke
Björn Menten
Katrien Bonte
Tine De Backer
Sandra Janssens
Fransiska Malfait
Joseph Panzer
et al.
C3
Conference
2019
2018
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
Brecht Guillemyn
Delfien Syx
L Demuynck
H Kayserili
Anne De Paepe
Paul Coucke
Fransiska Malfait
Sofie Symoens
C3
Conference
2018
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
Tim Van Damme
Xiaomeng Pang
Brecht Guillemyn
Sandrine Gulberti
Delfien Syx
Riet De Rycke
Olivier Kaye
Christine E. M. de Die-Smulders
Rolph Pfundt
Ariana Kariminejad
et al.
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2018
Classic Ehlers-Danlos syndrome
Fransiska Malfait
Richard Wenstrup
Anne De Paepe
Bookchapter
in
GeneReviews®
2018
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 Mosca
Maurizio Cutolo
Bombardieri Stefano
Fonseca Joao Eurico
Frank Charissa
Galetti Ilaria
Hachulla Eric
Houssiau Frederic
Mueller-Ladner Ulf
Schneider Matthias
et al.
Editorial material
2018
Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome
Tibbe Dhooge
Sarah Delbaere
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2018
Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families
Sarah Delbaere
Tibbe Dhooge
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2018
Ehlers-Danlos syndromes : state of the art on clinical practice guidelines
Alberto Sulli
Rosaria Talarico
Carlo Alberto Scirè
Tadej Avcin
Marco Castori
Alessandro Ferraris
Charissa Frank
Jürgen Grunert
Sabrina Paolino
Stefano Bombardieri
et al.
A1
Journal Article
in
RMD OPEN
2018
Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
Tibbe Dhooge
Sarah Delbaere
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2018
Fishing for the missing link : successful translation of a human disorder in zebrafish
Sarah Delbaere
Tim Van Damme
Delfien Syx
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2018
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
Osama Essawi
Sofie Symoens
Maha Fannana
Mohammad Darwish
Mohammad Farraj
Andy Willaert
Tamer Essawi
Bert Callewaert
Anne De Paepe
Fransiska Malfait
et al.
A1
Journal Article
in
MOLECULAR GENETICS & GENOMIC MEDICINE
2018
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
Brecht Guillemyn
Delfien Syx
Toon Rosseel
H Kayserlili
AM Cueto-González
L Van Maldergem
Björn Menten
Anne De Paepe
Paul Coucke
Fransiska Malfait
et al.
C3
Conference
2018
Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
Sarah Delbaere
Tim Van Damme
Delfien Syx
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2018
Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
Sarah Delbaere
Tim Van Damme
Delfien Syx
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2018
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
Sarah Delbaere
Andy Willaert
Phil L Salmon
Paul Coucke
Fransiska Malfait
C3
Conference
2018
Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
Sarah Delbaere
Andy Willaert
Phil L Salmon
Paul Coucke
Fransiska Malfait
C3
Conference
2018
Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
Tibbe Dhooge
Sarah Delbaere
Delfien Syx
Sofie Symoens
Fransiska Malfait
C3
Conference
2018
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
Sanne D'hondt
Brecht Guillemyn
Delfien Syx
Sofie Symoens
Riet De Rycke
Leen Vanhoutte
Wendy Toussaint
Bart Lambrecht
Anne De Paepe
Douglas R Keene
et al.
A1
Journal Article
in
MATRIX BIOLOGY
2018
Updating the evidence on functional capacity evaluation methods : a systematic review
Stijn De Baets
Patrick Calders
Noortje Schalley
Katrien Vermeulen
Sofie Vertriest
Lien Van Peteghem
Marieke Coussens
Fransiska Malfait
Guy Vanderstraeten
Geert Van Hove
et al.
A1
Journal Article
in
JOURNAL OF OCCUPATIONAL REHABILITATION
2018
Updating the evidence on functionale capacity evaluation : a systematic review
Stijn De Baets
Noortje Schalley
Katrien Vermeulen
Sofie Vertriest
Lien Van Peteghem
Marieke Coussens
Fransiska Malfait
Guy Vanderstraeten
Geert Van Hove
PATRICK DE BAETS
et al.
C3
Conference
2018
Vascular aspects of the Ehlers-Danlos syndromes
Fransiska Malfait
A1
Journal Article
in
MATRIX BIOLOGY
2018
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review
Sanne D'hondt
Tim Van Damme
Fransiska Malfait
A1
Journal Article
in
GENETICS IN MEDICINE
2018
Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model
Sarah Delbaere
Tim Van Damme
Delfien Syx
Paul Coucke
Anne De Paepe
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2018
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
Charlotte Gistelinck
Ronald Y Kwon
Fransiska Malfait
Sofie Symoens
Matthew P Harris
Katrin Henke
Michael B Hawkins
Shannon Fisher
Patrick Sips
Brecht Guillemyn
et al.
A1
Journal Article
in
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2018
2017
A framework for the classification of joint hypermobility and related conditions
Marco Castori
Brad Tinkle
Howard Levy
Rodney Grahame
Fransiska Malfait
Alan Hakim
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2017
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay
Annelot Baert
Julie Depuydt
Tom Van Maerken
Bruce Poppe
Fransiska Malfait
Tim Van Damme
Sylvia De Nobele
Gianpaolo Perletti
Kim De Leeneer
Kathleen Claes
et al.
A1
Journal Article
in
ONCOLOGY REPORTS
2017
Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
Ariana Kariminejad
Fariba Afroozan
Bita Bozorgmehr
Alireza Ghanadan
Susan Akbaroghli
Hamid Reza Khorram Khorshid
Faezeh Mojahedi
Aria Setoodeh
Abigail Loh
Yu Xuan Tan
et al.
A1
Journal Article
in
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2017
Ehlers-Danlos syndrome, classical type
Jessica M Bowen
Glenda J Sobey
Nigel P Burrows
Marina Colombi
Mark E Lavallee
Fransiska Malfait
Clair A Francomano
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2017
Foot kinematics in the hypermobility type of Ehlers-Danlos syndrome using the Ghent Foot Model
Sophie De Mits
Patrick Calders
Fransiska Malfait
Lies Rombaut
C3
Conference
2017
Hypermobility, the Ehlers-Danlos syndromes and chronic pain
Delfien Syx
Inge De Wandele
Lies Rombaut
Fransiska Malfait
A1
Journal Article
in
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
2017
Identification of a novel COL1A1 mutation associated with Caffey disease
Tibbe Dhooge
Delfien Syx
Geert Mortier
Dagmar Wieczorek
Sheila Unger
Andreas Zankl
Toni Hospach
Sofie Symoens
Fransiska Malfait
C3
Conference
2017
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
Tim Van Damme
Thatjana Gardeitchik
Miski Mohamed
Sergio Guerrero-Castillo
Peter Freisinger
Brecht Guillemyn
Ariana Kariminejad
Daisy Dalloyaux
Sanne van Kraaij
Dirk J Lefeber
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
Yaqun Zou
Sandra Donkervoort
Antti M Salo
A Reghan Foley
Aileen M Barnes
Ying Hu
Elena Makareeva
Meganne E Leach
Payam Mohassel
Jahannaz Dastgir
et al.
A1
Journal Article
in
HUMAN MOLECULAR GENETICS
2017
The 2017 International Classification of the Ehlers-Danlos Syndromes
Fransiska Malfait
Clair Francomano
Peter Byers
John Belmont
Britta Berglund
James Black
Lara Bloom
Jessica M Bowen
Angela F Brady
Nigel P Burrows
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2017
The Ehlers-Danlos syndromes, rare types
Angela F Brady
Serwet Demirdas
Sylvie Fournel-Gigleux
Neeti Ghali
Cecilia Giunta
Ines Kapferer-Seebacher
Tomoki Kosho
Roberto Mendoza-Londono
Michael F Pope
Marianne Rohrbach
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2017
The International Consortium on the Ehlers-Danlos Syndromes
Lara Bloom
Peter Byers
Clair Francomano
Brad Tinkle
Fransiska Malfait
Editorial material
2017
The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome : the impact of proprioception
Mark Scheper
Lies Rombaut
Janneke de Vries
Inge De Wandele
Martin van der Esch
Bart Visser
Fransiska Malfait
Patrick Calders
Raoul Engelbert
A1
Journal Article
in
DISABILITY AND REHABILITATION
2017
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood : a phenomenological, hermeneutical study
Stijn De Baets
Marieke Vanhalst
Marieke Coussens
Lies Rombaut
Fransiska Malfait
Geert Van Hove
Patrick Calders
Guy Vanderstraeten
Dominique Van de Velde
A1
Journal Article
in
RESEARCH IN DEVELOPMENTAL DISABILITIES
2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
Sofie Symoens
Wouter Steyaert
Lynn Demuynck
Anne De Paepe
Karin EM Diderich
Fransiska Malfait
Paul Coucke
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2017
Type III collagen : a major fibrillar collagen with major issues
Sanne D'hondt
Fransiska Malfait
Mathieu Bertrand
Sophie Janssens
Dissertation
2017
Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Riet De Rycke
Yoshi Ishikawa
Hans Peter Bachinger
Sophie Janssens
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2017
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
Brecht Guillemyn
Tim Van Damme
Delfien Syx
S Nampoothiri
H Kayserili
AM Cueto-González
L Van Maldergem
Anne De Paepe
Fransiska Malfait
Paul Coucke
et al.
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Paul Coucke
Sofie Symoens
Delfien Syx
Andy Willaert
Fransiska Malfait
C3
Conference
2017
2016
A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
Brecht Guillemyn
Tim Van Damme
Wouter Steyaert
Delfien Syx
Paul Coucke
Anne De Paepe
Sofie Symoens
Sheela Nampoothiri
Fransiska Malfait
C3
Conference
2016
Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients
Frederic Acke
Freya Swinnen
Fransiska Malfait
Ingeborg Dhooge
Els De Leenheer
A1
Journal Article
in
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
2016
Cephalometrics in Stickler syndrome : objectification of the typical facial appearance
Frederic Acke
Ingeborg Dhooge
Fransiska Malfait
Els De Leenheer
Guy De Pauw
A1
Journal Article
in
JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY
2016
Differential expression of type III collagen in male and female mice
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Yoshi Ishikawa
Hans Peter Bachinger
Sophie Janssens
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2016
Evaluation of the role of germline RECQL variants in Belgian patients referred for genetic testing in the context of familial breast/ovarian cancer
Greet Wieme
Ilse Coene
Liselotte Vergote
Bruce Poppe
Fransiska Malfait
Tom Van Maerken
Kim De Leeneer
Kathleen Claes
C3
Conference
2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
Tim Van Damme
Alain Colige
Delfien Syx
Cecilia Giunta
Uschi Lindert
Marianne Rohrbach
Omid Aryani
Yasemin Alanay
Pelin Özlem Simsek-Kiper
Hester Y Kroes
et al.
A1
Journal Article
in
GENETICS IN MEDICINE
2016
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation
Annelot Baert
Julie Depuydt
Tom Van Maerken
Bruce Poppe
Fransiska Malfait
Katrien Storm
Jenneke van den Ende
Tim Van Damme
Sylvia De Nobele
Gianpaolo Perletti
et al.
A1
Journal Article
in
BREAST CANCER RESEARCH
2016
Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
Charlotte Gistelinck
Paul Witten
Ann Huysseune
Sofie Symoens
Fransiska Malfait
Daria Larionova
Pascal Simoens
Manuel Dierick
Luc Van Hoorebeke
Anne De Paepe
et al.
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2016
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome
Inge De Wandele
Lies Rombaut
Tine De Backer
Wim Peersman
Hellen Da Silva Van den Bosch
Sophie De Mits
Anne De Paepe
Patrick Calders
Fransiska Malfait
A1
Journal Article
in
RHEUMATOLOGY
2016
Stickler syndrome: comprehensive clinical and molecular analysis
Frederic Acke
Paul Coucke
Olivier Vanakker
Kristien Hoornaert
Geert Mortier
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Fransiska Malfait
C3
Conference
2016
The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study
Stijn De Baets
Marieke Vanhalst
Marieke Coussens
Lies Rombaut
Fransiska Malfait
Geert Van Hove
Patrick Calders
Guy Vanderstraeten
Dominique Van de Velde
C3
Conference
2016
The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study
Stijn De Baets
Marieke Vanhalst
Marieke Coussens
Lies Rombaut
Fransiska Malfait
Geert Van Hove
Patrick Calders
Guy Vanderstraeten
Dominique Van de Velde
C3
Conference
2016
Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Riet De Rycke
Yoshi Ishikawa
Hans Peter Bachinger
Sophie Janssens
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2016
Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Riet De Rycke
Yoshi Ishikawa
Hans Peter Bachinger
Sophie Janssens
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2016
Y RIN2 syndrome : expanding the clinical phenotype
Simonetta Rosato
Delfien Syx
Ivan Ivanovski
Marzia Pollazzon
Daniela Santodirocco
Loredana De Marco
Marina Beltrami
Bert Callewaert
Livia Garavelli
Fransiska Malfait
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2016
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
Charlotte Gistelinck
R Gioia
A Gagliardi
F Tonelli
L Marchese
L Bianchi
C Landi
L Bini
Ann Huysseune
Paul Witten
et al.
A1
Journal Article
in
SCIENTIFIC REPORTS
2016
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Andy Willaert
Sofie Symoens
Paul Coucke
Fransiska Malfait
C3
Conference
2016
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
Sarah Delbaere
Tim Van Damme
Andy Willaert
Sofie Symoens
Fransiska Malfait
C3
Conference
2016
2015
A rare case of polycarpyly in a patient with Ellis-van Creveld syndrome: plain film findings and additional value of MRI
Marc Mespreuve
Filip Vanhoenacker
Fransiska Malfait
D Mortier
G Mertens
Other
2015
A zebrafish model for Bruck syndrome caused by PLOD2 mutations
Charlotte Gistelinck
Andy Willaert
Pascal Simoens
Sofie Symoens
Paul Witten
Ann Huysseune
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
C3
Conference
2015
Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
Pascal Simoens
Charlotte Gistelinck
Sofie Symoens
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
Andy Willaert
C3
Conference
2015
Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
Lies Rombaut
Mark Scheper
Inge De Wandele
Janneke De Vries
Mira Meeus
Fransiska Malfait
Raoul Engelbert
Patrick Calders
A1
Journal Article
in
CLINICAL RHEUMATOLOGY
2015
Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
Delfien Syx
Brecht Guillemyn
Sofie Symoens
Ana Berta Sousa
Ana Medeira
Margo Whiteford
Trinh Hermanns-Lê
Paul Coucke
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2015
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
Delfien Syx
Sofie Symoens
Wouter Steyaert
Anne De Paepe
Paul Coucke
Fransiska Malfait
A1
Journal Article
in
DISEASE MARKERS
2015
Further delineation of the auditory phenotype in Stickler syndrome
Frederic Acke
Freya Swinnen
Fransiska Malfait
Ingeborg Dhooge
Els De Leenheer
C3
Conference
2015
Further delineation of the auditory phenotype in Stickler syndrome
Frederic Acke
Freya Swinnen
Fransiska Malfait
Ingeborg Dhooge
Els De Leenheer
C3
Conference
2015
Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
Sofie Symoens
Aileen M Barnes
Charlotte Gistelinck
Fransiska Malfait
Brecht Guillemyn
Wouter Steyaert
Delfien Syx
Sanne D'hondt
Martine Biervliet
Julie De Backer
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
Delfien Syx
Tim Van Damme
Sofie Symoens
Merel C Maiburg
Ingrid van de Laar
Jenny Morton
Mohnish Suri
Miguel Del Campo
Ingrid Hausser
Trinh Hermanns-Lê
et al.
A1
Journal Article
in
HUMAN MUTATION
2015
Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
Tim Van Damme
Delfien Syx
Paul Coucke
Sofie Symoens
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
EXPERT OPINION ON ORPHAN DRUGS
2015
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists
Lies Rombaut
Janet Deane
Jane Simmonds
Inge De Wandele
Anne De Paepe
Fransiska Malfait
Patrick Calders
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2015
Postaxial polydactyly type A in a patient with Ellis-van Creveld syndrome: additional value of MR imaging
Marc Mespreuve
Filip Vanhoenacker
Fransiska Malfait
D Mortier
G Mertens
Other
2015
The G2 micronucleus-assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 mutation
Annelot Baert
Julie Depuydt
Bruce Poppe
Tom Van Maerken
Fransiska Malfait
Tim Van Damme
Sylvia De Nobele
Kim De Leeneer
Kathleen Claes
Anne Vral
C3
Conference
2015
The genetics of soft connective tissue disorders
Olivier Vanakker
Bert Callewaert
Fransiska Malfait
Paul Coucke
A1
Journal Article
in
Annual Review of Genomics and Human Genetics
2015
Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
Sofie Symoens
Wouter Steyaert
Lynn Demuynck
Fransiska Malfait
Anne De Paepe
Karin EM Diderich
Paul Coucke
C3
Conference
2015
Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Wendy Toussaint
Leen Vanhoutte
Riet De Rycke
Paul Coucke
Bart Lambrecht
Patrick Segers
Anne De Paepe
et al.
C3
Conference
2015
Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
Sanne D'hondt
Brecht Guillemyn
Sofie Symoens
Wendy Toussaint
Leen Vanhoutte
Riet De Rycke
Paul Coucke
Patrick Segers
Bart Lambrecht
Anne De Paepe
et al.
C3
Conference
2015
2014
A zebrafish model for Bruck Syndrome caused by PLOD2 mutations
Andy Willaert
Charlotte Gistelinck
Pascal Simoens
Sofie Symoens
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
C3
Conference
2014
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 Wandele
Patrick Calders
Wim Peersman
STEVEN RIMBAUT
Tine De Backer
Fransiska Malfait
Anne De Paepe
Lies Rombaut
A1
Journal Article
in
SEMINARS IN ARTHRITIS AND RHEUMATISM
2014
Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
Charlotte Gistelinck
Pascal Simoens
Sofie Symoens
Christian Vanhove
Fransiska Malfait
Anne De Paepe
Paul Coucke
Andy Willaert
C3
Conference
2014
Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
Lies Rombaut
Mark Scheper
Inge De Wandele
Janneke de Vries
Mira Meeus
Fransiska Malfait
Raoul Engelbert
Patrick Calders
C3
Conference
2014
Compound heterozygous mutations of the TNXB gene cause primary myopathy: response
Valérie Allamand
Philippe Beurrier
Ludovic Martin
Fransiska Malfait
Delfien Syx
Anne De Paepe
A1
Journal Article
in
NEUROMUSCULAR DISORDERS
2014
Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
Sofie Symoens
Aileen Barnes
Charlotte Gistelinck
Fransiska Malfait
Kris Vleminckx
Brecht Guillemyn
Delfien Syx
Wouter Steyaert
Eef Parthoens
Martine Biervliet
et al.
C3
Conference
2014
Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
Frederic Acke
Paul Coucke
Olivier Vanakker
Kristien Hoornaert
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Fransiska Malfait
C3
Conference
2014
Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome
Inge De Wandele
Lies Rombaut
Luc Leybaert
Philippe Van de Borne
Tine De Backer
Fransiska Malfait
Anne De Paepe
Patrick Calders
A1
Journal Article
in
SEMINARS IN ARTHRITIS AND RHEUMATISM
2014
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 Nampoothiri
Dhanya Yesodharan
Gazel Sainulabdin
Dhanyalakshmi Narayanan
Laxmi Padmanabhan
Katta Mohan Girisha
Sara S Cathey
Anne De Paepe
Fransiska Malfait
Delfien Syx
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2014
Endogenous pain modulation in the Ehlers-Danlos syndrome, hypermobility type
Inge De Wandele
Linda Hermans
Lies Rombaut
Mira Meeus
GRIET BRUSSELMANS
Fransiska Malfait
Anne De Paepe
Patrick Calders
C3
Conference
2014
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
Ramiah Rajeshkannan
Chinmay Kulkarni
Mahesh Kappanayil
Sheela Nampoothiri
Fransiska Malfait
Anne De Paepe
Srikanth Moorthy
A1
Journal Article
in
EUROPEAN RADIOLOGY
2014
Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients
Rie Harbou Nielsen
Christian Couppé
Jacob Kildevang Jensen
Morten Raun Olsen
Katja Maria Heinemeier
Fransiska Malfait
Sofie Symoens
Anne De Paepe
Peter Schjerling
Stig Peter Magnusson
et al.
A1
Journal Article
in
FASEB JOURNAL
2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
Frederic Acke
Fransiska Malfait
Olivier Vanakker
Wouter Steyaert
Kim De Leeneer
Geert Mortier
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Paul Coucke
A1
Journal Article
in
MOLECULAR GENETICS AND METABOLISM
2014
Osteogenesis imperfecta: meer dan alleen collageen?
Michaël Vanden Bulcke
Sofie Symoens
Fransiska Malfait
Anne De Paepe
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2014
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
Thomas Wiesmann
Marco Castori
Fransiska Malfait
Hinnerk Wulf
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2014
Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations
Ariana Kariminejad
Bita Bozorgmehr
Abdolhamid Najafi
Atefeh Khoshaeen
Maryam Ghalandari
Hossein Najmabadi
Mohamad Hasan Kariminejad
Olivier Vanakker
Mohammad Jakir Hosen
Fransiska Malfait
et al.
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2014
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 Verdin
Ana Fernández-Miñán
Kim De Leeneer
Liza Borms
Sandra Janssens
Bert Callewaert
Fransiska Malfait
Ariana Kariminejad
KATHLEEN DE WAELE
Inge François
et al.
C3
Conference
2014
The Ehlers-Danlos syndrome
Fransiska Malfait
Anne De Paepe
A1
Journal Article
in
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
2014
The G2 micronucleus assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 or BRCA2 mutation
Annelot Baert
Julie Depuydt
Bruce Poppe
Tom Van Maerken
Fransiska Malfait
Tim Van Damme
Sylvia De Nobele
Kim De Leeneer
Kathleen Claes
Anne Vral
C3
Conference
2014
The G2-micronucleus assay for the detection of in vitro chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers
Annelot Baert
Julie Depuydt
Bruce Poppe
Tom Van Maerken
Fransiska Malfait
Tim Van Damme
Kim De Leeneer
Kathleen Claes
Anne Vral
C3
Conference
2014
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
Sofie Symoens
David JS Hulmes
Jean-Marie Bourhis
Paul Coucke
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
HUMAN MUTATION
2014
2013
Arguments for dysfunctional pain in Ehlers-Danlos syndrome hypermobility type
Inge De Wandele
Lies Rombaut
Linda Hermans
Mira Meeus
Jessica Van Oosterwijck
Fransiska Malfait
Anne De Paepe
Patrick Calders
C3
Conference
2013
C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses
Sanne D'hondt
Sofie Symoens
Sophie Janssens
Anne De Paepe
Mathieu Bertrand
Fransiska Malfait
C3
Conference
2013
Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome
Inge De Wandele
Lies Rombaut
Fransiska Malfait
Tine De Backer
Anne De Paepe
Patrick Calders
A1
Journal Article
in
RESEARCH IN DEVELOPMENTAL DISABILITIES
2013
Clinical utility gene card for: osteogenesis imperfecta
Fleur van Dijk
Raymond Dalgleish
Fransiska Malfait
Alessandra Maugeri
Agnieszka Rusinska
Oliver Semler
Sofie Symoens
Gerard Pals
Editorial material
2013
Compound heterozygous mutations of the TNXB gene cause primary myopathy
Isabelle Pénisson-Besnier
Valérie Allamand
Philippe Beurrier
Ludovic Martin
Joost Schalkwijk
Ivonne van Vlijmen-Willems
Corine Gartioux
Fransiska Malfait
Delfien Syx
Laurent Macchi
et al.
A1
Journal Article
in
NEUROMUSCULAR DISORDERS
2013
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
Bert Callewaert
Chi-Ting Su
Tim Van Damme
Philip Vlummens
Fransiska Malfait
Olivier Vanakker
Bianca Schulz
Meghan Mac Neal
Elaine C Davis
Joseph GH Lee
et al.
A1
Journal Article
in
HUMAN MUTATION
2013
Copper deficiency in patients with cystinosis with cysteamine toxity
Martine T Besouw
Jerry Schneider
Mirian C Janssen
Marcella Greco
Francesco Emma
Elisabeth A Cornelissen
Koen Desmet
Flemming Skovby
François Nobili
Marc R Lillen
et al.
A1
Journal Article
in
JOURNAL OF PEDIATRICS
2013
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
Fransiska Malfait
Ariana Kariminejad
Tim Van Damme
Caroline Gauche
Delfien Syx
Faten Merhi-Soussi
Sandrine Gulberti
Sofie Symoens
Suzanne Vanhauwaert
Andy Willaert
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2013
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Sofie Symoens
Fransiska Malfait
Sanne D'hondt
Bert Callewaert
Annelies Dheedene
Wouter Steyaert
Hans Peter Bächinger
Anne De Paepe
Hulya Kayserili
Paul Coucke
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2013
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 Vral
Julie Depuydt
Annelot Baert
Bruce Poppe
Tom Van Maerken
Fransiska Malfait
Kim De Leeneer
Marc D'Hooghe
Kathleen Claes
C3
Conference
2013
Disorders of connective tissue and extracellular matrix
Fransiska Malfait
Anne De Paepe
Bookchapter
in
Hemostatis and thrombosis : basic principles and clinical practice
2013
Ehlers-Danlos Syndrome
Fransiska Malfait
Anne De Paepe
Bookchapter
in
Brenner's encyclopedia of genetics, vol. 2
2013
Hearing impairment in Stickler syndrome: a systematic review
Frederic Acke
Ingeborg Dhooge
Fransiska Malfait
Els De Leenheer
C3
Conference
2013
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 Malfait
Sofie Symoens
Nathalie Goemans
Yolanda Gyftodimou
Eva Holmberg
Vanesa Lopez-Gonzalez
Geert Mortier
Sheela Nampoothiri
Michael Bjorn Petersen
Anne De Paepe
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2013
Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
Frederic Acke
Fransiska Malfait
Olivier Vanakker
Wouter Steyaert
Kim De Leeneer
Geert Mortier
Ingeborg Dhooge
Anne De Paepe
Els De Leenheer
Paul Coucke
C3
Conference
2013
Sequence alterations in the carboxyl-terminal propeptide domain
Fransiska Malfait
Sofie Symoens
Anne De Paepe
Bookchapter
in
Osteogenesis imperfecta : a translational approach to brittle bone disease
2013
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
Marjolijn Renard
Bert Callewaert
Fransiska Malfait
Laurence Campens
Saba Sharif
Miguel del Campo
Irene Valenzuela
Catherine Mcwilliam
Paul Coucke
Anne De Paepe
et al.
A1
Journal Article
in
INTERNATIONAL JOURNAL OF CARDIOLOGY
2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Smail Hadj-Rabia
Bert Callewaert
Emmanuelle Bourrat
Marlies Kempers
Astrid S Plomp
Valerie Layet
Deborah Bartholdi
Marjolijn Renard
Julie De Backer
Fransiska Malfait
et al.
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2013
2012
Autonomic function tests in patients with the hypermobility type of Ehlers-Danlos syndrome
Inge De Wandele
Lies Rombaut
Tine De Backer
Johan Ryckaert
Patrick Calders
Fransiska Malfait
Anne De Paepe
C3
Conference
2012
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 Kappanayil
Sheela Nampoothiri
Rajesh Kannan
Marjolijn Renard
Paul Coucke
Fransiska Malfait
Swapna Menon
Hiran K Ravindran
Renu Kurup
Muhammad Faiyaz-Ul-Haque
et al.
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2012
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Sofie Symoens
Delfien Syx
Fransiska Malfait
Bert Callewaert
Julie De Backer
Olivier Vanakker
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2012
Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome
Yike Kang
Sofie Symoens
Fransiska Malfait
Paul Coucke
Marjolijn Renard
Brecht Guillemyn
Julie De Backer
Filipe Branco Madeira
Wendy Toussaint
Leen Vanhoutte
et al.
C3
Conference
2012
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Fleur van Dijk
Peter Byers
Raymond Dalgleish
Fransiska Malfait
Alessandra Maugeri
Marianne Rohrbach
Sofie Symoens
Erik Sistermans
Gerard Pals
A1
Journal Article
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2012
Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood
M Klaassens
E Reinstein
Y Hilhorst-Hofstee
JJP Schrander
Fransiska Malfait
H Staal
LC ten Have
J Blaauw
HCJ Roggeveen
D Krakow
et al.
A1
Journal Article
in
CLINICAL GENETICS
2012
Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
Anne De Paepe
Bert Callewaert
Laurence Campens
Paul Coucke
Fransiska Malfait
Marjolijn Renard
Olivier Vanakker
Julie De Backer
LAURENT DEMULIER
Katrien Francois
et al.
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2012
Hearing impairment in Stickler syndrome: a systematic review
Frederic Acke
Ingeborg Dhooge
Fransiska Malfait
Els De Leenheer
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2012
Het Ehlers-Danlossyndroom, een aandoening met vele gezichten
Fransiska Malfait
Anne De Paepe
A4
Journal Article
in
PERCENTIEL (NEDERLANDSE ED.)
2012
Impact of Ehlers Danlos Syndrom-Hypermobile Type on lower limb function
Joris De Schepper
Sabine Verschelde
Fransiska Malfait
Anne De Paepe
Patrick Calders
Lies Rombaut
C3
Conference
2012
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers Danlos syndrome
Lies Rombaut
Fransiska Malfait
Inge De Wandele
Youri Taes
Youri Thijs
Anne De Paepe
Patrick Calders
A1
Journal Article
in
ARTHRITIS CARE & RESEARCH
2012
Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos Syndrome
Lies Rombaut
Fransiska Malfait
Inge De Wandele
Nele Mahieu
Youri Thijs
Patrick Segers
Anne De Paepe
Patrick Calders
A1
Journal Article
in
ARTHRITIS CARE AND RESEARCH
2012
Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome
K de Leeuw
JF Goorhuis
IFJ Tielliu
Sofie Symoens
Fransiska Malfait
Anne De Paepe
JP van Tintelen
JBF Hulscher
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2012
Symmetry of footalignment and ankle flexibility in female patients with Ehlers Danlos Syndrome-Hypermobile Type
Joris De Schepper
Sabine Verschelde
Fransiska Malfait
Anne De Paepe
Lies Rombaut
Patrick Calders
C3
Conference
2012
The Ehlers-Danlos syndrome, a disorder with many faces
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
CLINICAL GENETICS
2012
2011
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe Kyphoscoliosis and eye involvement
Sofie Symoens
Fransiska Malfait
Philip Vlummens
Trinh Hermanns-Le
Delfien Syx
Anne De Paepe
A1
Journal Article
in
PLOS ONE
2011
Balance and gait and risk of falling in females with the Ehlers-Danlos syndrome
Lies Rombaut
Fransiska Malfait
Inge De Wandele
Anne De Paepe
Patrick Calders
C3
Conference
2011
Balance, gait, falls and fear of falling in women with the hypermobility type of ehlers-danlos syndrome.
Lies Rombaut
Fransiska Malfait
Inge De Wandele
Youri Thijs
Tanneke Palmans
Anne De Paepe
Patrick Calders
A1
Journal Article
in
ARTHRITIS CARE & RESEARCH
2011
De genetische raadpleging: waarom doorverwijzen ?
Fransiska Malfait
Anne De Paepe
Newsarticle
2011
Ehlers-Danlos syndrome, classic type
Fransiska Malfait
Richard Wenstrup
Anne De Paepe
Bookchapter
in
GeneReviews®
2011
Identification of binding partners interacting with the α1-N-propeptide of type V collagen
Sofie Symoens
Marjolijn Renard
Christelle Bonod-Bidaud
Delfien Syx
Elisabeth Vaganay
Fransiska Malfait
Sylvie Ricard-Blum
Efrat Kessler
Lut Van Laer
Paul Coucke
et al.
A1
Journal Article
in
BIOCHEMICAL JOURNAL
2011
Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis
Lies Rombaut
Fransiska Malfait
Anne De Paepe
STEVEN RIMBAUT
August Verbruggen
Inge De Wandele
Patrick Calders
A1
Journal Article
in
ARTHRITIS AND RHEUMATISM
2011
Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome
Lies Rombaut
Fransiska Malfait
Inge De Wandele
Ann Cools
Youri Thijs
Anne De Paepe
Patrick Calders
A1
Journal Article
in
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
2011
Muscle mass, muscle strength, and functional impairment in women with the Ehlers-Danlos syndrome
Lies Rombaut
Fransiska Malfait
Inge De Wandele
Stefan Goemaere
Anne De Paepe
Patrick Calders
C3
Conference
2011
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
Brian P Kelley
Fransiska Malfait
Luisa Bonafe
Dustin Baldridge
Erica Homan
Sofie Symoens
Andy Willaert
Nursel Elcioglu
Lionel Van Maldergem
Christine Verellen-Dumoulin
et al.
A1
Journal Article
in
JOURNAL OF BONE AND MINERAL RESEARCH
2011
Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype
Freya Swinnen
Paul Coucke
Anne De Paepe
Sofie Symoens
Fransiska Malfait
Filomena Gentile
Luca Sangiorgi
Patrizia D'Eufemia
Ton Garretsen
Cor Cremers
et al.
C3
Conference
2011
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
Freya Swinnen
Paul Coucke
Anne De Paepe
Sofie Symoens
Fransiska Malfait
Filomena V Gentile
Luca Sangiorgi
Patrizia D'Eufemia
Mauro Celli
Ton JTM Garretsen
et al.
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2011
Presence and impact of autonomic symptoms in patients with Ehlers-Danlos syndrome
Inge De Wandele
Lies Rombaut
Fransiska Malfait
Anne De Paepe
Patrick Calders
C3
Conference
2011
Reply to the letter to the editor by Marc Williams
Fransiska Malfait
Richard J Wenstrup
Anne De Paepe
A1
Journal Article
in
GENETICS IN MEDICINE
2011
Spier- en gewrichtsproblemen bij het hypermobiele type van het Ehlers-Danlos syndroom
Lies Rombaut
Fransiska Malfait
Patrick Calders
A2
Journal Article
in
ORTHO-RHEUMATO
2011
2010
Clinical and genetic aspects of ehlers-Danlos syndrome, classic type
Fransiska Malfait
Richard J Wenstrup
Anne De Paepe
A1
Journal Article
in
GENETICS IN MEDICINE
2010
Health status and impact of pain : a comparative study between female patients with the Ehlers-Danlos syndrome, fibromyalgia and rheumatoid arthritis
Lies Rombaut
Fransiska Malfait
STEVEN RIMBAUT
Bert Vander Cruyssen
Anne De Paepe
Patrick Calders
C3
Conference
2010
Health status and impact of pain: a comparative study between patients with Ehlers-Danlos syndrome, fibromyalgia, and rheumatoid arthritis
Lies Rombaut
Fransiska Malfait
STEVEN RIMBAUT
Anne De Paepe
Patrick Calders
C3
Conference
2010
Impaired balance and gait and increased risk of falling in females with the Ehlers-Danlos syndrome
Lies Rombaut
Fransiska Malfait
Anne De Paepe
Inge De Wandele
Patrick Calders
C3
Conference
2010
Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type)
Lies Rombaut
Anne De Paepe
Fransiska Malfait
Ann Cools
Patrick Calders
A1
Journal Article
in
CLINICAL RHEUMATOLOGY
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 Malfait
Delfien Syx
Philip Vlummens
Sofie Symoens
Sheela Nampoothiri
Trinh Hermanns-Le
Lut Van Laer
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2010
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type
Lies Rombaut
Fransiska Malfait
Ann Cools
Anne De Paepe
Patrick Calders
A1
Journal Article
in
DISABILITY AND REHABILITATION
2010
Presence and impact of autonomic symptoms in patients with the hypermobility type of Ehlers-Danlos syndrome
Inge De Wandele
Fransiska Malfait
Anne De Paepe
Patrick Calders
Lies Rombaut
C3
Conference
2010
Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
Elke Verstraeten
Sofie Symoens
Marjolijn Renard
Bert Callewaert
K Vandekerckhove
Julie De Backer
Fransiska Malfait
L Marks
Paul Coucke
Anne De Paepe
et al.
A1
Journal Article
in
CLINICAL DYSMORPHOLOGY
2010
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
Delfien Syx
Fransiska Malfait
Lut Van Laer
Jan Hellemans
T Hermanns-Le
Andy Willaert
A Benmansour
Anne De Paepe
A Verloes
A1
Journal Article
in
HUMAN GENETICS
2010
The heritable disorders of connective tissue: epidemiology, nosology and clinical features
Alan J Hakim
Fransiska Malfait
Anne De Paepe
Bookchapter
in
Hypermobility, fibromyalgia and chronic pain
2010
Vascular haemostasis
NS Key
Anne De Paepe
Fransiska Malfait
CL Shovlin
A1
Journal Article
in
HAEMOPHILIA
2010
2009
A review of the ADAMTS family, pharmaceutical targets of the future
Micky D Tortorella
Fransiska Malfait
Ruteja A Barve
Huey-Sheng Shieh
Anne-Marie Malfait
A1
Journal Article
in
CURRENT PHARMACEUTICAL DESIGN
2009
Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment
Fransiska Malfait
Anne De Paepe
A1
Journal Article
in
BLOOD REVIEWS
2009
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
Sofie Symoens
Fransiska Malfait
Marjolijn Renard
Josette André
Ingrid Hausser
Bart Loeys
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2009
Joint position sense and vibratory perception sense in patients with the Ehlers-Danlos syndrome hypermobility type
Lies Rombaut
Anne De Paepe
Fransiska Malfait
Ann Cools
Patrick Calders
C3
Conference
2009
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
Andy Willaert
Fransiska Malfait
Sofie Symoens
Kris Gevaert
H. Kayserili
A. Megarbane
Geert Mortier
J. G. Leroy
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2009
The Ehlers-Danlos syndrome
Fransiska Malfait
Anne De Paepe
Bookchapter
in
A clinician's pearls and myths in rheumatology
2009
2008
A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta
Andy Willaert
Sofie Symoens
Fransiska Malfait
Kris Gevaert
Paul Coucke
Anne De Paepe
C3
Conference
2008
A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta
Fransiska Malfait
Andy Willaert
Sofie Symoens
Paul Coucke
Anne De Paepe
C3
Conference
2008
Ehlers-Danios syndromes and Marfan syndrome
Bert Callewaert
Fransiska Malfait
Bart Loeys
Anne De Paepe
A1
Journal Article
in
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
2008
Osteogenesis Imperfecta: klinische en genetische aspecten van de broze botziekte
Olivier Vanakker
Fransiska Malfait
Anne De Paepe
A4
Journal Article
in
NEDERLANDS TIJDSCHRIFT VOOR CALCIUM- EN BOTSTOFWISSELING
2008
2007
Lisinopril in paediatric medicine : a retrospective chart review of long-term treatment in children
Ann Raes
Fransiska Malfait
Sara Van Aken
Raymond AMG Donckerwolcke
Johan Vande Walle
A1
Journal Article
in
JOURNAL OF THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM
2007
Lisinopril in paediatric medicine: a retrospective chart review of long-term treatment in children
Ann Raes
Fransiska Malfait
Sara Van Aken
ANNICK FRANCE
Raymond AMG Donckerwolcke
Johan Vande Walle
A1
Journal Article
in
JOURNAL OF THE RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM
2007
New insights in the molecular pathogenesis of the Ehlers-Danlos syndrome
Fransiska Malfait
Anne De Paepe
Dissertation
2007
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 Malfait
Sofie Symoens
Julie De Backer
Trinh HERMANNS-LE
Natzi SAKALIHASAN
Charles M LAPIERE
Paul Coucke
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2007
2006
EDS/OI caused by collagen type I mutations
Fransiska Malfait
Sofie Symoens
Yves Vander Haeghen
Jean Naeyaert
N Goemans
E Holmberg
M Petersen
Paul Coucke
Anne De Paepe
C3
Conference
2006
Het Ehlers-Danlos syndroom : van genotype naar fenotype
Fransiska Malfait
Anne De Paepe
A2
Journal Article
in
TIJDSCHRIFT VOOR GENEESKUNDE
2006
The genetic basis of the joint hypermobility syndromes
Fransiska Malfait
AJ HAKIM
Anne De Paepe
R GRAHAME
A1
Journal Article
in
RHEUMATOLOGY
2006
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 Malfait
Sofie Symoens
Paul Coucke
L Nunes
S De Almeida
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2006
2005
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient
LC WALKER
MA OVERSTREET
A SIDDIQUI
Anne De Paepe
G CEYLANER
Fransiska Malfait
Sofie Symoens
P ATSAWASUWAN
M YAMAUCHI
S CEYLANER
et al.
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2005
Molecular genetics in classic Ehlers-Danlos syndrome
Fransiska Malfait
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
2005
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
Fransiska Malfait
Paul Coucke
Sofie Symoens
Bart Loeys
Lieve Nuytinck
Anne De Paepe
A1
Journal Article
in
HUMAN MUTATION
2005
2004
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders
Anne De Paepe
Fransiska Malfait
A1
Journal Article
in
BRITISH JOURNAL OF HAEMATOLOGY
2004
DUP25 remains unconfirmed
Stefan Vermeulen
Björn Menten
Sylvia De Bie
Paul Coucke
Fransiska Malfait
Julie De Backer
Franki Speleman
Anne De Paepe
B LOEYS
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
Ehlers-Danlos syndrome
Fransiska Malfait
Paul Coucke
Anne De Paepe
Bookchapter
in
Encyclopedia of medical genomics and proteomics
2004
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 Symoens
Lieve Nuytinck
E LEGIUS
Fransiska Malfait
Paul Coucke
Anne De Paepe
A1
Journal Article
in
JOURNAL OF MEDICAL GENETICS
2004
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene
A COLIGE
Lieve Nuytinck
I HAUSSER
AJ VAN ESSEN
M THIRY
C HERENS
LC ADES
Fransiska Malfait
Anne De Paepe
P FRANCK
et al.
A1
Journal Article
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2004
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
Fransiska Malfait
Peter De Coster
I HAUSSER
AJ VAN ESSEN
P FRANCK
A COLIGE
B NUSGENS
Luc Martens
Anne De Paepe
A1
Journal Article
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
2003
The genetic basis of Osteogenesis Imperfecta
Fransiska Malfait
Anne De Paepe
A4
Journal Article
in
'T BUITENBEENTJE (EEKLO)
2003
The natural history of human dermatosparaxis: A report of two cases
Fransiska Malfait
Peter De Coster
I HAUSSER
P FRANCK
Anne De Paepe
C3
Conference
2003
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC)
Peter De Coster
Fransiska Malfait
LC MARTENS
Anne De Paepe
A1
Journal Article
in
JOURNAL OF ORAL PATHOLOGY & MEDICINE
2003
2002
Orofacial manifestations in a thirteen-year-old girl with dermatosparaxis (Ehlers-Danos syndrome type VIIc)
Peter De Coster
Fransiska Malfait
Luc Martens
Anne De Paepe
C1
Conference
2002
Proximal tubular hypertrophy during long-term follow-up of children for unilateral Wilm's tumor
Fransiska Malfait
Els Vandecruys
Catharina Dhooge
Ann Raes
Yves Benoit
Johan Vande Walle
C3
Conference
2002
Rationalised ACE inhibition (ACE-I) dosing in non-hypertensive children
Annick France
Ann Raes
Fransiska Malfait
Bart Loeys
Sara Van Aken
Jo Dehoorne
Johan Vande Walle
C3
Conference
2002
The natural history of human dermatosparaxis (Ehlers-Danios Syndrome VII C)
Fransiska Malfait
Bart Loeys
Peter De Coster
Anne De Paepe
C3
Conference
2002
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome VII C)
Fransiska Malfait
Bart Loeys
Peter De Coster
Anne De Paepe
C3
Conference
2002
1999
The αE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells
Stefan Vermeulen
Friedel Nollet
E TEUGELS
KM VENNEKENS
Fransiska Malfait
Jan Philippé
Franki Speleman
Marc Bracke
Frans Van Roy
Marcus Mareel
A1
Journal Article
in
ONCOGENE
1999
1998
Anemie liee à l' administration d'inhibiteurs ACE chez 2 patients avec nephropathie apres ifosfamide
Fransiska Malfait
Johan Vande Walle
Ann Raes
Catharina Dhooge
Guy Laureys
Yves Benoit
C3
Conference
1998