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
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Guo X et al.
The Tohoku Journal of Experimental Medicine, 2017
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.
Rafati M et al.
European Journal of Medical Genetics, 2016
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Abedalthagafi MS et al.
Oncotarget, 2014
Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.
Cao L et al.
Oncology Reports, 2014
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
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.
Sfar S et al.
Molecular Biology Reports, 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
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.
Li H et al.
Journal of Human Genetics, 2002
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