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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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b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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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
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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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The Ehlers-Danlos syndromes
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- Journal Article
- A1
- open access
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
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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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- Journal Article
- A2
- open access
Physical activity and sleep in patients with hypermobile Ehlers–Danlos syndrome and patients with generalized hypermobility spectrum disorder
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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
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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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Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome
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Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study
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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 -
- Journal Article
- A1
- open access
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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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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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
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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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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
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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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Two novel probands with Myhre syndrome identified through WES
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- Conference Paper
- C3
- open access
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy
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Identification of unmet needs related to rare and complex connective tissue and musculoskeletal diseases (RCTDS) across EU : the experience of the ERN ReCONNET
(2019) ANNALS OF THE RHEUMATIC DISEASES. In Annals of the Rheumatic Diseases 78(Supplement 2). p.999-999 -
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) -
- 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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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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- Miscellaneous
- open access
Clinical practice guidelines : the first year of activity of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET)
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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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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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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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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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- Journal Article
- A1
- open access
Ehlers-Danlos syndromes : state of the art on clinical practice guidelines
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Vascular aspects of the Ehlers-Danlos syndromes
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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