Associated Papers
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.
Marchionni E et al.
Bone Reports, 2023
The implementation and utility of clinical exome sequencing in a South African infant cohort.
Campbell L et al.
Frontiers in Genetics, 2023
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T et al.
Genes, 2022
35052477 (PubMed )
Supplement: genes-13-00137-s001.zip › Tables_with_mutations_in_COL2A1_gene_2.pdf
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M et al.
European Journal of Human Genetics : Ejhg, 2016
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
Silveira KC et al.
American Journal of Medical Genetics. Part A, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA et al.
American Journal of Medical Genetics. Part A, 2015
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
Zhang Z et al.
Biochemical and Biophysical Research Communications, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
Cui YX et al.
Genetic Testing, 2008
The phenotypic spectrum of COL2A1 mutations.
Nishimura G et al.
Human Mutation, 2005
Select a paper to view details