365 related articles for article (PubMed ID: 19810120)
1. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Jennes I; Pedrini E; Zuntini M; Mordenti M; Balkassmi S; Asteggiano CG; Casey B; Bakker B; Sangiorgi L; Wuyts W
Hum Mutat; 2009 Dec; 30(12):1620-7. PubMed ID: 19810120
[TBL] [Abstract][Full Text] [Related]
2. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W; Van Hul W
Hum Mutat; 2000; 15(3):220-7. PubMed ID: 10679937
[TBL] [Abstract][Full Text] [Related]
3. An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Wuyts W; Radersma R; Storm K; Vits L
Clin Genet; 2005 Dec; 68(6):542-7. PubMed ID: 16283885
[TBL] [Abstract][Full Text] [Related]
4. 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; White SJ; Gabelic S; Hogendoorn PC; Breuning MH; Bakker E
Eur J Hum Genet; 2005 Apr; 13(4):470-4. PubMed ID: 15586175
[TBL] [Abstract][Full Text] [Related]
5. A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.
Yang L; Hui WS; Chan WC; Ng VC; Yam TH; Leung HC; Huang JD; Shum DK; Jie Q; Cheung KM; Cheah KS; Luo Z; Chan D
J Orthop Res; 2010 Nov; 28(11):1522-30. PubMed ID: 20872591
[TBL] [Abstract][Full Text] [Related]
6. Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
Park KJ; Shin KH; Ku JL; Cho TJ; Lee SH; Choi IH; Phillipe C; Monaco AP; Porter DE; Park JG
J Hum Genet; 1999; 44(4):230-4. PubMed ID: 10429361
[TBL] [Abstract][Full Text] [Related]
7. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
Pedrini E; De Luca A; Valente EM; Maini V; Capponcelli S; Mordenti M; Mingarelli R; Sangiorgi L; Dallapiccola B
Hum Mutat; 2005 Sep; 26(3):280. PubMed ID: 16088908
[TBL] [Abstract][Full Text] [Related]
8. Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Guo X; Lin M; Shi T; Yan W; Chen W
Tohoku J Exp Med; 2017 Jul; 242(3):173-181. PubMed ID: 28690282
[TBL] [Abstract][Full Text] [Related]
9. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
Raskind WH; Conrad EU; Matsushita M; Wijsman EM; Wells DE; Chapman N; Sandell LJ; Wagner M; Houck J
Hum Mutat; 1998; 11(3):231-9. PubMed ID: 9521425
[TBL] [Abstract][Full Text] [Related]
10. Identification and functional characterization of the human EXT1 promoter region.
Jennes I; Zuntini M; Mees K; Palagani A; Pedrini E; De Cock G; Fransen E; Vanden Berghe W; Sangiorgi L; Wuyts W
Gene; 2012 Jan; 492(1):148-59. PubMed ID: 22037484
[TBL] [Abstract][Full Text] [Related]
11. [From gene to disease; hereditary multiple exostoses].
Wuyts W; Bovée JV; Hogendoorn PC
Ned Tijdschr Geneeskd; 2002 Jan; 146(4):162-4. PubMed ID: 11845565
[TBL] [Abstract][Full Text] [Related]
12. Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas.
Hameetman L; David G; Yavas A; White SJ; Taminiau AH; Cleton-Jansen AM; Hogendoorn PC; Bovée JV
J Pathol; 2007 Mar; 211(4):399-409. PubMed ID: 17226760
[TBL] [Abstract][Full Text] [Related]
13. EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.
Stickens D; Brown D; Evans GA
Dev Dyn; 2000 Jul; 218(3):452-64. PubMed ID: 10878610
[TBL] [Abstract][Full Text] [Related]
14. Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.
Szuhai K; Jennes I; de Jong D; Bovée JV; Wiweger M; Wuyts W; Hogendoorn PC
Hum Mutat; 2011 Feb; 32(2):E2036-49. PubMed ID: 21280143
[TBL] [Abstract][Full Text] [Related]
15. One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H; Wada T; Seki H; Kubota T; Wakui K; Fukushima Y
Genet Test; 2008 Dec; 12(4):557-61. PubMed ID: 18976157
[TBL] [Abstract][Full Text] [Related]
16. A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.
Xiao CY; Wang J; Zhang SZ; Van Hul W; Wuyts W; Qiu WM; Wu H; Zhang G
Br J Cancer; 2001 Jul; 85(2):176-81. PubMed ID: 11461073
[TBL] [Abstract][Full Text] [Related]
17. Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.
Kang Z; Peng F; Ling T
Gene; 2012 Sep; 506(2):298-300. PubMed ID: 22820392
[TBL] [Abstract][Full Text] [Related]
18. 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; Entius MM; Van Hul E; Parra A; Sangiorgi L; Wuyts W
J Mol Diagn; 2008 Jan; 10(1):85-92. PubMed ID: 18165274
[TBL] [Abstract][Full Text] [Related]
19. Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.
Kobayashi S; Morimoto K; Shimizu T; Takahashi M; Kurosawa H; Shirasawa T
Biochem Biophys Res Commun; 2000 Feb; 268(3):860-7. PubMed ID: 10679296
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.
Kang QL; Xu J; Zhang Z; He JW; Fu WZ; Zhang ZL
Arch Med Res; 2013 Oct; 44(7):542-8. PubMed ID: 24120389
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]