Associated Papers
Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.
Guo X et al.
Bone & Joint Research, 2025
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.
Kim S et al.
Journal of Clinical Medicine, 2022
A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas.
Chen Z et al.
Genetic Testing and Molecular Biomarkers, 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
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang A et al.
Annals of Human Genetics, 2019
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.
Veraldi N et al.
Molecules (basel, Switzerland), 2018
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Li Y et al.
Medicine, 2018
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.
Ruan W et al.
Oncology Letters, 2018
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.
Li Y et al.
Bmc Medical Genetics, 2017
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
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.
Musso N et al.
Cancer Genetics, 2015
Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.
Kang Z et al.
Gene, 2012
MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures.
Zuntini M et al.
Clinical Genetics, 2010
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
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.
Gigante M et al.
International Journal of Cancer, 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