Associated Papers
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.
Guo XL et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M et al.
Gene, 2013
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Jennes I et al.
Human Mutation, 2009
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
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.
Signori E et al.
Genes, Chromosomes & Cancer, 2007
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
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Wuyts W et al.
Clinical Genetics, 2005
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
Cheung PK et al.
American Journal of Human Genetics, 2001
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
Bernard MA et al.
Cell Motility and the Cytoskeleton, 2001
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2000