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Items: 1 to 20 of 138

1.

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.

2.

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.

3.

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
4.

Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing.

Liu H, Wu S, Duan L, Zhu W, Zhang S, Hu X, Jia W, Yang G, Liu C, Li W, Yang L, Guo L, Lin Y, Wang Y, He M, Yang Z, He Y, Cai Z, Wang D.

Oncol Rep. 2015 Feb;33(2):547-52. doi: 10.3892/or.2014.3610. Epub 2014 Nov 21.

5.

[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
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 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
8.

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.

9.

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.

10.

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.

11.

[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.

12.

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.

13.

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.

14.

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.

Cao L, Liu F, Kong M, Fang Y, Gu H, Chen Y, Zhao C, Zhang S, Bi Q.

Oncol Rep. 2014 Feb;31(2):713-8. doi: 10.3892/or.2013.2891. Epub 2013 Dec 2.

PMID:
24297320
15.

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.

16.

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Santos SCL, Rizzo IMPO, Takata RI, Speck-Martins CE, Brum JM, Sollaci C.

Mol Genet Genomic Med. 2018 May;6(3):382-392. doi: 10.1002/mgg3.382. Epub 2018 Mar 12.

17.

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
18.

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
19.
20.

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Li Y, Wang J, Tang J, Wang Z, Han B, Li N, Yu T, Chen Y, Fu Q.

Medicine (Baltimore). 2018 Oct;97(42):e12855. doi: 10.1097/MD.0000000000012855.

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