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Items: 1 to 20 of 150

1.

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.

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.

[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.

4.

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.

Chen WC, Chi CH, Chuang CC, Jou IM.

J Formos Med Assoc. 2006 May;105(5):434-7.

5.

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
6.

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.

7.

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.

8.

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
9.

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
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.

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.

Lemos MC, Kotanko P, Christie PT, Harding B, Javor T, Smith C, Eastell R, Thakker RV.

J Clin Endocrinol Metab. 2005 Sep;90(9):5386-92. Epub 2005 Jun 28.

PMID:
15985493
12.

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Pei Y, Wang Y, Huang W, Hu B, Huang D, Zhou Y, Su P.

Genet Test Mol Biomarkers. 2010 Dec;14(6):865-72. doi: 10.1089/gtmb.2010.0040. Epub 2010 Nov 1.

PMID:
21039224
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.

Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.

Cousminer DL, Arkader A, Voight BF, Pacifici M, Grant SFA.

Bone. 2016 Nov;92:196-200. doi: 10.1016/j.bone.2016.09.005. Epub 2016 Sep 9.

15.

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
16.

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.

17.

Genotype-phenotype correlation in hereditary multiple exostoses.

Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J, Legeai-Mallet L.

J Med Genet. 2001 Jul;38(7):430-4.

18.

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
19.

[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
20.

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B.

Hum Mutat. 2005 Sep;26(3):280.

PMID:
16088908

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