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Items: 1 to 20 of 158

1.

[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
2.

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
3.

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
4.

[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
5.

[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
6.

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.

7.

[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
8.

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
9.

[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.

10.

[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
11.

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A, Socha M, Sowińska-Seidler A, Telega K, Trzeciak T, Latos-Bieleńska A.

J Appl Genet. 2014 May;55(2):183-8. doi: 10.1007/s13353-014-0195-z. Epub 2014 Feb 15.

12.

Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.

Foroughmand AM, Galehdari H, Rasouli M, Mohammadian G, Mohammadi M.

Pak J Biol Sci. 2008 Apr 1;11(7):1037-41.

PMID:
18810975
13.

[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
14.

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.

15.

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 20;85(2):176-81.

16.

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.

17.
18.

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
19.

[Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses].

He HB, Hu ZM, Li HJ, Zhu Y, Shi XL, Lei GH, Zhou JN, Li KH.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):323-7. Chinese.

20.

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

Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP.

Am J Hum Genet. 1997 Sep;61(3):520-8.

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