4.5 Article

Comprehensive Molecular Analysis Demonstrates Type V Collagen Mutations in over 90% of Patients with Classic EDS and Allows to Refine Diagnostic Criteria

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

K. de Leeuw et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Biochemistry & Molecular Biology

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

Sofie Symoens et al.

BIOCHEMICAL JOURNAL (2011)

Review Cell Biology

The unfolded protein response and its relevance to connective tissue diseases

Raymond P. Boot-Handford et al.

CELL AND TISSUE RESEARCH (2010)

Article Genetics & Heredity

Molecular Mechanisms of Classical Ehlers-Danlos Syndrome (EDS)

Anna L. Mitchell et al.

HUMAN MUTATION (2009)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Genetics & Heredity

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

J Kirschner et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Letter Genetics & Heredity

Using all alleles in the multiallelic versions of the SDT and combined SDT/TDT

W Czika et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)

Article Genetics & Heredity

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

C Giunta et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Medicine, General & Internal

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

J Schalkwijk et al.

NEW ENGLAND JOURNAL OF MEDICINE (2001)

Article Genetics & Heredity

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

RJ Wenstrup et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Genetics & Heredity

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

L Nuytinck et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)