205 related articles for article (PubMed ID: 20872591)
1. 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]
2. 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]
3. Novel mutation of EXT2 identified in a large family with multiple osteochondromas.
Chen XJ; Zhang H; Tan ZP; Hu W; Yang YF
Mol Med Rep; 2016 Nov; 14(5):4687-4691. PubMed ID: 27748933
[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. 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]
6. 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]
7. 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]
8. Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.
Hecht JT; Hayes E; Haynes R; Cole WG; Long RJ; Farach-Carson MC; Carson DD
Differentiation; 2005 Jun; 73(5):212-21. PubMed ID: 16026543
[TBL] [Abstract][Full Text] [Related]
9. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
Faiyaz-Ul-Haque M; Ahmad W; Zaidi SH; Hussain S; Haque S; Ahmad M; Cohn DH; Tsui LC
Clin Genet; 2004 Aug; 66(2):144-51. PubMed ID: 15253765
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L
Gene; 2013 Feb; 515(2):339-48. PubMed ID: 23262345
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.
Xu Y; Kang Q; Zhang Z
Mol Med Rep; 2017 Oct; 16(4):5599-5605. PubMed ID: 28849184
[TBL] [Abstract][Full Text] [Related]
14. Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
Wu Y; Xing X; Xu S; Ma H; Cao L; Wang S; Luo Y
J Orthop Res; 2013 Sep; 31(9):1492-9. PubMed ID: 23629877
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis].
Li L; Li X; Liu Y; Zheng S; Zhang J; Liu Q; Heng X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):743-6. PubMed ID: 25449079
[TBL] [Abstract][Full Text] [Related]
17. Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
Leube B; Hardt K; Portier S; Westhoff B; Jäger M; Krauspe R; Royer-Pokora B
Genet Test; 2008 Mar; 12(1):129-33. PubMed ID: 18373409
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of Novel Mutations in the
Tong Y; Zhang Y; Luo J; Hong Z; Chen X; Bi Q
Genet Test Mol Biomarkers; 2021 Feb; 25(2):145-151. PubMed ID: 33596140
[No Abstract] [Full Text] [Related]
20. A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.
Tian C; Yan R; Wen S; Li X; Li T; Cai Z; Li X; Du H; Chen H
PLoS One; 2014; 9(4):e94848. PubMed ID: 24728384
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
