Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis.
Zheng Y et al.
Journal of Human Genetics, 2025
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2025
Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.
Wang X et al.
Frontiers in Endocrinology, 2025
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.
Gnoli M et al.
Orphanet Journal of Rare Diseases, 2024
The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.
Liu M et al.
The Oncologist, 2023
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
Güneş N et al.
Turkish Archives of Pediatrics, 2023
Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.
Mohaidat Z et al.
Oncology Letters, 2021
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.
Wang Y et al.
Frontiers in Genetics, 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
A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.
Tyran M et al.
Cancers, 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
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
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
Cousminer DL et al.
Bone, 2016
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Ishimaru D et al.
Bmc Genetics, 2016
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
Mooij HL et al.
Journal of the American Heart Association, 2014
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.
Jamsheer A et al.
Journal of Applied Genetics, 2014
Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.
Kang QL et al.
Archives of Medical Research, 2013
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
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Jennes I et al.
Human Mutation, 2009
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.
Vanita V et al.
Genetic Testing and Molecular Biomarkers, 2009
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H et al.
Genetic Testing, 2008
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Alvarez CM et al.
Clinical Orthopaedics and Related Research, 2007
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
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Pedrini E et al.
Human Mutation, 2005
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
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
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.
Seki H et al.
American Journal of Medical Genetics, 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
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
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
Raskind WH et al.
Human Mutation, 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