Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.
Zhan S et al.
Acta Paediatrica (oslo, Norway : 1992), 2025
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
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
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T et al.
Genes, 2022
Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.
Wu K et al.
Bmc Medical Genomics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.
Xu Y et al.
International Journal of Biological Sciences, 2020
A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.
Xiong Q et al.
Human Genome Variation, 2018
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
Chen J et al.
Bmc Pediatrics, 2017
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L et al.
European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2016
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 2015
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
Li H et al.
European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2015
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
Kawano O et al.
American Journal of Medical Genetics. Part A, 2015
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
Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
Cao LH et al.
Genetics and Molecular Research : Gmr, 2012
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Terhal PA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
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
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
Cui YX et al.
Genetic Testing, 2008
[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
Zhu HY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
Xia XY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.
Xia X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
[Prenatal diagnosis of two pregnancies with risk of chromosomal disorders].
Cui YX et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2007
The phenotypic spectrum of COL2A1 mutations.
Nishimura G et al.
Human Mutation, 2005
[Five de novo forms of polymorphisms first found in Chinese mitochondrial genome].
Qi Y et al.
Zhonghua Yi Xue Za Zhi, 2001
Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
Veeravagu A et al.
World Neurosurgery, 0
Molecular genetics of the COL2A1-related disorders.
Deng H et al.
Mutation Research. Reviews in Mutation Research, 0