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Items: 1 to 20 of 174

1.

[Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses].

Deng LB, Quan Y, Liu J, Lin Peng SY, Liang DS, Wu LQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):641-4. doi: 10.3760/cma.j.issn.1003-9406.2013.06.001. Chinese.

PMID:
24327137
2.

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
3.

[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
4.

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.

5.

[Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas].

Huang XS, Liu JS, Jiang HO, Quan QL, Shen XQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):645-8. doi: 10.3760/cma.j.issn.1003-9406.2013.06.002. Chinese.

PMID:
24327138
6.

Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.

Vanita V, Sperling K, Sandhu HS, Sandhu PS, Singh JR.

Genet Test Mol Biomarkers. 2009 Feb;13(1):43-9. doi: 10.1089/gtmb.2008.0055.

PMID:
19309273
7.
8.

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
9.

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
10.

[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses].

Zhao WQ, Song SJ, Wei Q, Qiao J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):241-4. doi: 10.3760/cma.j.issn.1003-9406.2009.03.001. Chinese.

PMID:
19504431
11.

[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
12.

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.

Li Y, Wang D, Wang W, Wang J, Li H, Wang J, Wang X, Fu Q.

Genet Test Mol Biomarkers. 2009 Dec;13(6):825-30. doi: 10.1089/gtmb.2009.0083.

PMID:
19839753
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. doi: 10.3892/mmr.2017.7252. Epub 2017 Aug 14.

PMID:
28849184
14.

[Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis].

Lou G, Yang K, Qin L, Zhang Y, Wang H, Hou Q, He M, Liao S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):91-95. doi: 10.3760/cma.j.issn.1003-9406.2018.01.021. Chinese.

PMID:
29419870
15.

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

SarriĆ³n 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.

16.

[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses].

Wang W, Qiu ZQ, Song HM.

Zhongguo Dang Dai Er Ke Za Zhi. 2014 Feb;16(2):174-80. Chinese.

17.

[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. doi: 10.3760/cma.j.issn.1003-9406.2014.06.013. Chinese.

PMID:
25449079
18.

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
19.

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
20.

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

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