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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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- Book Chapter
- open access
LTBP4-related cutis laxa
(2022) Gene reviews. -
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
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- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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- Journal Article
- A1
- open access
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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Clinical characteristics of Galloway-Mowat syndrome and mutations in the TPRKB gene
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
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Lack of resemblance between Myhre syndrome and other 'segmental progeroid' syndromes warrants restraint in applying this classification
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- Journal Article
- A1
- open access
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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- Journal Article
- A1
- open access
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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Structural variants disrupt a critical regulatory region downstream of FOXG1
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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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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Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
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Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
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- Journal Article
- A1
- open access
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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- Journal Article
- open access
Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa
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- Journal Article
- open access
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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- Journal Article
- A1
- open access
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
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- Conference Paper
- C3
- open access
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
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Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
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A clinical scoring system for congenital contractural arachnodactyly
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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
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Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
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Genetics in congenital heart disease : are we ready for it?
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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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Disproportion and dysmorphism in an adult Belgian population with Turner syndrome : risk factors for chronic diseases?
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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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
Mowat-Wilson syndrome : growth charts
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Genética en la cardiopatía congénita : ¿estamos preparados?
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
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- Journal Article
- A1
- open access
New insights on the clinical variability of FKBP10 mutations
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- Journal Article
- A1
- open access
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
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Lessons learned from 40 novel PIGA patients and a review of the literature
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum
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- Journal Article
- A1
- open access
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
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- Journal Article
- A1
- open access
Decreased nuclear ascorbate accumulation accompanied with altered genomic methylation pattern in fibroblasts from arterial tortuosity syndrome patients
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
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- 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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Two novel probands with Myhre syndrome identified through WES
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SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
(2019) -
Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome
(2019) -
Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
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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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Mutation update for the SATB2 gene
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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
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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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Arterial tortuosity syndrome : 40 new families and literature review
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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De gevolgen van FOXP1-mutaties : meer dan verstandelijke beperking en taalontwikkelingsstoornissen alleen
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A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification
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Clinicopathological findings in cutis laxa syndromes
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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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- Journal Article
- A1
- open access
Clinical validity of genes for heritable thoracic aortic aneurysm and dissection
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ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Small patella syndrome : new clinical and molecular insights into a consistent phenotype
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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- Journal Article
- A1
- open access
Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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Fibromuscular dysplasia : results of a multicentre study in Flanders
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Myhre syndrome : broadening the phenotypic spectrum
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Myhre syndrome : broadening the phenotypic spectrum
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Congenital contractural arachnodactyly : delineation of clinical criteria
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- Journal Article
- A1
- open access
GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts
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Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces
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FOXP1-related intellectual disability syndrome : a recognisable entity
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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
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Fibromuscular dysplasia : results of a multicentre study in Flanders
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Arterial tortuosity syndrome : 40 new families and literature review
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Arterial tortuosity syndrome : 37 new families and literature review
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NR4A2 causes an autism spectrum disorder
(2017) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. In European Journal of Paediatric Neurology 21(Supplement 1). p.e49-e49 -
- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport