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Items: 1 to 20 of 144

1.

[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
2.

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.

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.

[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
5.

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.

6.

[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
7.

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
8.

[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
9.

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.

10.

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
11.

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
12.

[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
13.

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.

14.

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
15.

[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].

Zhang M, Liu SG, Li FF, Zhou WH, Jin XH, Ma X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):646-51. Chinese.

PMID:
18067075
16.

[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.

17.

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Stancheva-Ivanova MK, Wuyts W, van Hul E, Radeva BI, Vazharova RV, Sokolov TP, Vladimirov BY, Apostolova MD, Kremensky IM.

J Inherit Metab Dis. 2011 Aug;34(4):917-21. doi: 10.1007/s10545-011-9314-8. Epub 2011 Apr 16.

PMID:
21499719
18.

[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
19.

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
20.

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

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