Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 42, Issue 10, Pages 1294-1306
Publisher
Wiley
Online
2021-07-16
DOI
10.1002/humu.24258
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Arterial complications in classical Ehlers-Danlos syndrome: a case series
- (2020) Chloe Angwin et al. JOURNAL OF MEDICAL GENETICS
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
- (2020) Claire Green et al. GENETICS IN MEDICINE
- Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
- (2020) Marco Ritelli et al. Orphanet Journal of Rare Diseases
- The Ehlers–Danlos syndromes
- (2020) Fransiska Malfait et al. Nature Reviews Disease Primers
- Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome
- (2019) Delfien Syx et al. HUMAN MOLECULAR GENETICS
- A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
- (2019) June Duong et al. European Journal of Medical Genetics
- Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant
- (2019) Salma Adham et al. CLINICAL GENETICS
- Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
- (2018) Patrick R. Blackburn et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta
- (2018) Ruwan Weerakkody et al. GENETICS IN MEDICINE
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review
- (2017) Sanne D'hondt et al. GENETICS IN MEDICINE
- Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation inCOL1A1: Report on a three-generation family without cardiovascular events, and literature review
- (2016) Marina Colombi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Type V Collagen in Health, Disease, and Fibrosis
- (2016) Ki M. Mak et al. Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology
- Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation inCOL5A1
- (2015) Glen R Monroe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting
- (2015) Bulat A. Ziganshin et al. ANNALS OF THORACIC SURGERY
- Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype
- (2015) Rick Gaines et al. ANNALS OF VASCULAR SURGERY
- Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta
- (2015) Meena Balasubramanian et al. CLINICAL DYSMORPHOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Successful Endovascular Treatment of a Ruptured Superior Mesenteric Artery in a Patient with Ehlers‒Danlos Syndrome
- (2013) Shota Yasuda et al. ANNALS OF VASCULAR SURGERY
- Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
- (2013) Marco Ritelli et al. Orphanet Journal of Rare Diseases
- Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome
- (2012) K. de Leeuw et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
- (2012) Sofie Symoens et al. HUMAN MUTATION
- Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
- (2010) Guntram Borck et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Identification of binding partners interacting with the α1-N-propeptide of type V collagen
- (2010) Sofie Symoens et al. BIOCHEMICAL JOURNAL
- Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)
- (2009) Anna L. Mitchell et al. HUMAN MUTATION
- COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
- (2008) Sofie Symoens et al. HUMAN MUTATION
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now