Associated Papers
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Caino S et al.
Genes, 2022
Case report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans.
Zhang Q et al.
Frontiers in Oncology, 2022
Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.
Yuan G et al.
Biomed Research International, 2021
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Santos SCL et al.
Molecular Genetics & Genomic Medicine, 2018
Peripheral chondrosarcoma progression is associated with increased type X collagen and vascularisation.
de Andrea CE et al.
Virchows Archiv : an International Journal of Pathology, 2012
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.
Jennes I et al.
The Journal of Molecular Diagnostics : Jmd, 2008
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lonie L et al.
Human Mutation, 2006
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
Vink GR et al.
European Journal of Human Genetics : Ejhg, 2005
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