Associated Papers
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Caino S et al.
Genes, 2022
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.
Kim S et al.
Journal of Clinical Medicine, 2022
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed Z et al.
Orphanet Journal of Rare Diseases, 2021
Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.
Mohaidat Z et al.
Oncology Letters, 2021
Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
Liang C et al.
Orthopaedic Surgery, 2020
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C et al.
Human Molecular Genetics, 2019
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Li Y et al.
Medicine, 2018
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
Santos SCL et al.
Molecular Genetics & Genomic Medicine, 2018
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.
Li Y et al.
Bmc Medical Genetics, 2017
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
Delgado MA et al.
Scientific Reports, 2014
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.
Jamsheer A et al.
Journal of Applied Genetics, 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
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Sarrión P et al.
Scientific Reports, 2013
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
Stancheva-Ivanova MK et al.
Journal of Inherited Metabolic Disease, 2011
Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
Pei Y et al.
Genetic Testing and Molecular Biomarkers, 2010
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.
Zuntini M et al.
Oncogene, 2010
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
Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.
Hameetman L et al.
The Journal of Pathology, 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
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Pedrini E et al.
Human Mutation, 2005
Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C et al.
Journal of Medical Genetics, 2001
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W et al.
Human Mutation, 2000
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W et al.
American Journal of Human Genetics, 1998
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
Philippe C et al.
American Journal of Human Genetics, 1997
Mutation analysis of hereditary multiple exostoses in the Chinese.
Xu L et al.
Human Genetics, 0