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Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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- Journal Article
- A1
- open access
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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- Journal Article
- A1
- open access
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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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
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction
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- Conference Paper
- C3
- open access
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119 -
- Conference Paper
- C3
- open access
Risk of malignant hyperthermia in patients carrying a variant in the ryanodine receptor 1 gene
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S296-S296 -
- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.472-472 -
Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for in vitro fertilization
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- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization
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- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
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- Journal Article
- A1
- open access
Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers
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- Journal Article
- A1
- open access
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review
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- Journal Article
- A2
- open access
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
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More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5
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Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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- Journal Article
- A1
- open access
New insights on the clinical variability of FKBP10 mutations
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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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
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A clinical scoring system for congenital contractural arachnodactyly
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
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Lack of bone mineralization in a TANGO1 deficient patient
(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 28(Supplement 1). p.254-255 -
Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
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- Journal Article
- A1
- open access
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
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Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
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- Journal Article
- A1
- open access
The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
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- Conference Paper
- C3
- open access
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy
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ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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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
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- Conference Paper
- C3
- open access
Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.
(2019) -
- Journal Article
- A1
- open access
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
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- Miscellaneous
- open access
Vascular Ehlers-Danlos syndrome in 2 Polish patients : identification of 2 novel COL3A1 gene mutations
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- Conference Paper
- C3
- open access
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders
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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
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Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
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Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
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Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families
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- Conference Paper
- C3
- open access
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
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- Conference Paper
- C3
- open access
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
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Fishing for the missing link : successful translation of a human disorder in zebrafish
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Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
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Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
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Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046 -
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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- Conference Paper
- C3
- open access
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Identification of a novel COL1A1 mutation associated with Caffey disease
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis
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Differential expression of type III collagen in male and female mice
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Congenital contractural arachnodactyly
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- Journal Article
- A1
- open access
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
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Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
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Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
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Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
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Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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- Journal Article
- A1
- open access
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
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A zebrafish model for Bruck syndrome caused by PLOD2 mutations
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Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
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Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
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Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients
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Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
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Ullrich congenital muscular dystrophy: a new cellular study on cultured skin fibroblasts
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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Osteogenesis imperfecta: meer dan alleen collageen?
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A zebrafish model for Bruck Syndrome caused by PLOD2 mutations
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Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
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Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery
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Clinical utility gene card for: osteogenesis imperfecta
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Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
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Copper deficiency in patients with cystinosis with cysteamine toxity
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- Journal Article
- A1
- open access
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
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C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses
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Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome
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Sequence alterations in the carboxyl-terminal propeptide domain
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- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
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Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome
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Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome
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Study of the role of type V collagen in heritable connective tissue diseases
(2012) -
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
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- Journal Article
- A1
- open access
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
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Identification of binding partners interacting with the α1-N-propeptide of type V collagen
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- Journal Article
- A1
- open access
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe Kyphoscoliosis and eye involvement
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- Conference Paper
- C3
- open access
Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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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
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- Journal Article
- A1
- open access
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
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A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta
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A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta
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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
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Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
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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
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A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations
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EDS/OI caused by collagen type I mutations
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The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
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A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient
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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
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A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features