Published in BMC Genet on March 09, 2016
Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. Curr Osteoporos Rep (2017) 0.75
The natural history of hereditary multiple exostoses. J Bone Joint Surg Am (1994) 3.88
Multiple osteochondromas. Orphanet J Rare Dis (2008) 2.61
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet (1995) 2.29
Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J Bone Joint Surg Am (2012) 1.96
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet (1996) 1.87
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat (2009) 1.61
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet (1997) 1.49
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat (2000) 1.36
Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res (1997) 1.31
Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses. J Bone Joint Surg Am (2007) 1.27
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics (1998) 1.24
A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proc Natl Acad Sci U S A (2010) 1.20
Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet (1998) 1.17
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am (2011) 1.17
Genomic organization and promoter structure of the human EXT1 gene. Genomics (1997) 1.15
The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res (1997) 1.03
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep (2013) 1.03
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer (2007) 1.01
Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet (1999) 1.00
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet (2001) 0.87
What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration? Clin Orthop Relat Res (2015) 0.84
Scoliosis in patients with multiple hereditary exostoses. Eur Spine J (2015) 0.82
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet (2014) 0.78