Associated Papers
Diversity in heritable disorders of connective tissue at a single center.
Hsu RH et al.
Connective Tissue Research, 2021
A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.
Zhang Z et al.
Bmc Medical Genomics, 2021
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
Dasa V et al.
American Journal of Medical Genetics. Part A, 2019
Osteonecrosis of the femoral head: genetic basis.
Wang T et al.
International Orthopaedics, 2019
COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.
Liu F et al.
Molecular Medicine Reports, 2018
Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.
Sakamoto Y et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2017
Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.
Rukavina I et al.
Seminars in Arthritis and Rheumatism, 2014
Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.
Husar-Memmer E et al.
Seminars in Arthritis and Rheumatism, 2013
Clinical phenotypes associated with type II collagen mutations.
Kannu P et al.
Journal of Paediatrics and Child Health, 2012
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.
Kannu P et al.
Clinical Orthopaedics and Related Research, 2011
Premature arthritis is a distinct type II collagen phenotype.
Kannu P et al.
Arthritis and Rheumatism, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
Cui YX et al.
Genetic Testing, 2008
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.
Su P et al.
Arthritis and Rheumatism, 2008
Type II collagen gene variants and inherited osteonecrosis of the femoral head.
Liu YF et al.
The New England Journal of Medicine, 2005
Molecular genetics of the COL2A1-related disorders.
Deng H et al.
Mutation Research. Reviews in Mutation Research, 0