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。Premature Arthritis Is a Distinct Type II Collagen Phenotype
Peter Kannu et al.
ARTHRITIS AND RHEUMATISM (2010)
Employing Molecular Genetics of Chondrodysplasias to Inform the Study of Osteoarthritis
Peter Kannu et al.
ARTHRITIS AND RHEUMATISM (2009)
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
John F. Bateman et al.
NATURE REVIEWS GENETICS (2009)
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1
Peiqiang Su et al.
ARTHRITIS AND RHEUMATISM (2008)
Perthes' disease and the search for genetic associations COLLAGEN MUTATIONS, GAUCHER'S DISEASE AND THROMBOPHILIA
G. Kenet et al.
JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME (2008)
Czech dysplasia metatarsal type: another type II collagen disorder
Kristien P. Hoornaert et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family
Yoshinari Miyamoto et al.
HUMAN GENETICS (2007)
Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome
Peter Kannu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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)
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
KP Hoornaert et al.
JOURNAL OF MEDICAL GENETICS (2006)
The phenotypic spectrum of COL2A1 mutations
G Nishimura et al.
HUMAN MUTATION (2005)
Type II collagen gene variants and inherited osteonecrosis of the femoral head
YF Liu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Genetic aspects of osteoarthritis
JF Bateman
SEMINARS IN ARTHRITIS AND RHEUMATISM (2005)
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
A Zankl et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1)
T Löppönen et al.
ARTHRITIS & RHEUMATISM-ARTHRITIS CARE & RESEARCH (2004)
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene:: Double-layer patella as a reliable sign
O Mäkitie et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule
AJ Richards et al.
JOURNAL OF MEDICAL GENETICS (2002)
The hip in Stickler syndrome
PS Rose et al.
JOURNAL OF PEDIATRIC ORTHOPAEDICS (2001)
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case
F Parentin et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2001)
分享论文
