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Literature DB >> 25591329

Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma.

K Malini¹, Narayan S Gudi, A V M Kutty, Sharath Balakrishna.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2015 PMID： 25591329 DOI： 10.1007/s12098-014-1675-1

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

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4 in total

1. Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

Authors: M Gigante; M G Matera; D Seripa; A M Izzo; R Venanzi; A Giannotti; M C Digilio; C Gravina; M Lazzari; G Monteleone; M Monteleone; B Dallapiccola; V M Fazio
Journal: Int J Cancer Date: 2001-11-20 Impact factor: 7.396

2. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Authors: C Philippe; D E Porter; M E Emerton; D E Wells; A H Simpson; A P Monaco
Journal: Am J Hum Genet Date: 1997-09 Impact factor: 11.025

3. A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

Authors: Emanuela Signori; Emanuela Massi; Maria Giovanna Matera; Monica Poscente; Carolina Gravina; Gianluca Falcone; Michele Attilio Rosa; Monica Rinaldi; Wim Wuyts; Davide Seripa; Bruno Dallapiccola; Vito Michele Fazio
Journal: Genes Chromosomes Cancer Date: 2007-05 Impact factor: 5.006

Review 4. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Authors: Ivy Jennes; Elena Pedrini; Monia Zuntini; Marina Mordenti; Sahila Balkassmi; Carla G Asteggiano; Brett Casey; Bert Bakker; Luca Sangiorgi; Wim Wuyts
Journal: Hum Mutat Date: 2009-12 Impact factor: 4.878

4 in total

3 in total

Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma.

1. Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

2. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

3. A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

Review 4. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Review 1. Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern.

2. A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.

Review 3. Hereditary Multiple Exostoses: Current Insights.