dr. Delfien Syx
- ORCID iD
- 0000-0001-9421-4496
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- Journal Article
- open access
Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development
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NRF2 shortage in human skin fibroblasts dysregulates matrisome gene expression and affects collagen fibrillogenesis
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- Journal Article
- A1
- open access
Analysis of matrisome expression patterns in murine and human dorsal root ganglia
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
(2023) -
- 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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- 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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- 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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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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- Journal Article
- A2
- open access
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome
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- Journal Article
- A1
- open access
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
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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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Matrisome expression in the dorsal root ganglion
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Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome : a case-control study
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- Journal Article
- A1
- open access
The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism
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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
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- Conference Paper
- C3
- open access
Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
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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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Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges
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Collagens in the physiopathology of the Ehlers–Danlos Syndromes
(2021) The collagen superfamily and collagenopathies. In Biology of Extracellular Matrix 8. p.55-119 -
- Journal Article
- A1
- open access
Animal models of Ehlers–Danlos syndromes : phenotype, pathogenesis, and translational potential
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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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Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos 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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- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization
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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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Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical 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
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
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- 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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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea 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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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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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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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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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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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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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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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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Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
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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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- Journal Article
- A1
- open access
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta