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Items: 1 to 20 of 102

1.

[Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family].

Tang Y, Zheng DZ, Guo XY, Liao J, Lan FH.

Beijing Da Xue Xue Bao Yi Xue Ban. 2013 Dec 18;45(6):906-9. Chinese.

2.

[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
3.

[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
4.

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.

Zhang F, Liang J, Guo X, Zhang Y, Wen Y, Li Q, Zhang Z, Ma W, Dai L, Liu X, Yang L, Wang J.

PLoS One. 2013 Aug 29;8(8):e72316. doi: 10.1371/journal.pone.0072316. eCollection 2013.

5.

[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
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.

[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
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.

[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].

Li W, Hu ZM, Xie ZG, He HB, Pan Q, Xia K, Xia JH.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Aug;32(4):546-50. Chinese.

10.

Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing.

Hong G, Guo X, Yan W, Li Q, Zhao H, Ma P, Hu X.

Mol Med Rep. 2017 Feb;15(2):657-664. doi: 10.3892/mmr.2016.6086. Epub 2016 Dec 29.

11.

A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree.

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

Pathology. 2010 Jan;42(1):91-3. doi: 10.3109/00313020903434694. No abstract available.

PMID:
20025490
12.

[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.

13.

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Sfar S, Abid A, Mahfoudh W, Ouragini H, Ouechtati F, Abdelhak S, Chouchane L.

Mol Biol Rep. 2009 Apr;36(4):661-7. doi: 10.1007/s11033-008-9226-3. Epub 2008 Mar 11.

PMID:
18330718
14.

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
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.

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
17.

[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
18.

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S.

BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.

19.

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
20.

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