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。A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome
Stuart Baker et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Stickler Syndrome and the Vitreous Phenotype: Mutations in COL2A1 and COL11A1
Allan J. Richards et al.
HUMAN MUTATION (2010)
The Fibrillar Collagen Family
Jean-Yves Exposito et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2010)
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome
Ali Al Kaissi et al.
PEDIATRIC RHEUMATOLOGY (2009)
The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies
A. J. Richards et al.
EYE (2008)
Retinal detachment and prophylaxis in type I Stickler syndrome
Alan Ang et al.
OPHTHALMOLOGY (2008)
Distribution of different collagen types in the rat's tympanic membrane and its suspending structures
Johan Knutsson et al.
OTOLOGY & NEUROTOLOGY (2007)
Clinical characterisation and molecular analysis of Wagner syndrome
Sarah P. Meredith et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2007)
Vitreous phenotype: A key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity
Alan Aug et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
Guy Van Camp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: Vitreoretinal assessment coupled with exon sequencing for screening COL2A1
Allan J. Richards et al.
HUMAN MUTATION (2006)
Stickler syndrome: Clinical characteristics and diagnostic criteria
PS Rose et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome
T Miyamoto et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
T Harel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea:: Implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype
KB Shpargel et al.
ACTA OTO-LARYNGOLOGICA (2004)
Stickler syndrome type I and stapes ankylosis
LWJ Baijens et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2004)
A stop codon mutation in COL11A2 induces Exon skipping and leads to non-ocular Stickler syndrome
MM Vuoristo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Clinical variability of Stickler syndrome: Role of exon 2 of the collagen COL2A1 gene
LA Donoso et al.
SURVEY OF OPHTHALMOLOGY (2003)
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stickler syndrome family
LA Donoso et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2002)
Versican: a versatile extracellular matrix proteoglycan in cell biology
TN Wight
CURRENT OPINION IN CELL BIOLOGY (2002)
Auditory dysfunction in Stickler syndrome
YM Szymko-Bennett et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2001)
Clinical features of hereditary progressive arthroophthalmopathy (Stickler syndrome): A survey
GB Stickler et al.
GENETICS IN MEDICINE (2001)
Thoracolumbar spinal abnormalities in Stickler syndrome
PS Rose et al.
SPINE (2001)
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
AL Sertié et al.
HUMAN MOLECULAR GENETICS (2000)
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
AJ Richards et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2000)
分享论文
