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Items: 1 to 20 of 181

1.

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. doi: 10.1002/jor.22378. Epub 2013 Apr 29.

2.

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.

Ann Hum Genet. 2009 May;73(Pt 3):283-91. doi: 10.1111/j.1469-1809.2009.00508.x. Epub 2009 Mar 25.

3.

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. doi: 10.1016/j.arcmed.2013.09.008. Epub 2013 Oct 10.

PMID:
24120389
4.

[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].

Zhou YA, Ma YX, Zhang YH, Hao ZQ, Li XJ, Shi YY, Zhang QB, Li PL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):95-8. doi: 10.3760/cma.j.issn.1003-9406.2013.01.023. Chinese.

PMID:
23450490
5.

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

Ishimaru D, Gotoh M, Takayama S, Kosaki R, Matsumoto Y, Narimatsu H, Sato T, Kimata K, Akiyama H, Shimizu K, Matsumoto K.

BMC Genet. 2016 Mar 9;17:52. doi: 10.1186/s12863-016-0359-4.

6.

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.

Zhu HY, Hu YL, Yang Y, Wu X, Zhu RF, Zhu XY, Duan HL, Zhang Y, Zhou JY.

Chin Med J (Engl). 2011 Oct;124(19):3054-7.

PMID:
22040554
7.

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 Apr 11;9(4):e94848. doi: 10.1371/journal.pone.0094848. eCollection 2014.

8.

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. doi: 10.3892/mmr.2016.5814. Epub 2016 Oct 6.

9.

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. doi: 10.3892/mmr.2017.7252. Epub 2017 Aug 14.

PMID:
28849184
10.

Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.

Kang Z, Peng F, Ling T.

Gene. 2012 Sep 15;506(2):298-300. doi: 10.1016/j.gene.2012.07.006. Epub 2012 Jul 20.

PMID:
22820392
12.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D.

Sci Rep. 2013;3:1346. doi: 10.1038/srep01346.

13.
14.

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.

PMID:
16088908
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. doi: 10.1089/gte.2008.0048.

PMID:
18976157
16.

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 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20.

PMID:
23262345
17.

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. doi: 10.1620/tjem.242.173.

18.

Mutation analysis of hereditary multiple exostoses in the Chinese.

Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX.

Hum Genet. 1999 Jul-Aug;105(1-2):45-50.

PMID:
10480354
19.

[The EXT2 gene mutation in a family with hereditary multiple exostoses].

Yao F, Wang Y, Liao S, Wang L, Wang T, Kang B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):92-5. doi: 10.3760/cma.j.issn.1003-9406.2010.01.020. Chinese.

PMID:
20140877
20.

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.

PMID:
10429361

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