Show
Sort by
-
HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
-
- Journal Article
- A1
- open access
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
-
- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
-
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
- Journal Article
- A1
- open access
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
-
Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa
-
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
-
- Book Chapter
- open access
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
-
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
-
- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
-
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
-
Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
-
Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
-
Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
-
Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
-
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
-
Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
-
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
-
- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
-
ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype
-
Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
-
- Journal Article
- A1
- open access
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
-
Two novel probands with Myhre syndrome identified through WES
-
Clinicopathological findings in cutis laxa syndromes
-
Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification
-
Arterial tortuosity syndrome : 40 new families and literature review
-
Arterial tortuosity syndrome : 37 new families and literature review
-
Arterial tortuosity syndrome : 40 new families and literature review
-
Arterial tortuosity syndrome : 29 novel families