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Items: 1 to 20 of 190

1.

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
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.

[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
4.

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.

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.

Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan.

Shi YR, Wu JY, Hsu YA, Lee CC, Tsai CH, Tsai FJ.

Genet Test. 2002 Fall;6(3):237-43.

PMID:
12490068
7.

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.

8.

[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.

9.

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.

10.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ.

Am J Hum Genet. 1998 Feb;62(2):346-54.

11.

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
12.

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.

13.

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.

14.

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
15.

[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
16.

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.

17.
18.

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
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.

[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

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