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Items: 1 to 20 of 104

1.

Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.

Guo XL, Deng Y, Liu HG.

J Huazhong Univ Sci Technolog Med Sci. 2014 Feb;34(1):42-50. doi: 10.1007/s11596-014-1230-3. Epub 2014 Feb 6.

PMID:
24496678
2.

[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.

3.

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
4.

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
5.

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
6.

[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
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.

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.

9.

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.

10.

[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
11.

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
12.

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.

13.

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].

Heinritz W, Pretzsch M, Koall S, Matzen PF, Froster UG.

Orthopade. 2005 May;34(5):470-6. German.

PMID:
15739063
14.

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.

15.

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Medek K, Zeman J, Honzík T, Hansíková H, Švecová Š, Beránková K, Kučerová Vidrová V, Kuklík M, Chomiak J, Tesařová M.

Prague Med Rep. 2017;118(2-3):87-94. doi: 10.14712/23362936.2017.8.

16.

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.

Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF.

Bone. 2015 Mar;72:123-7. doi: 10.1016/j.bone.2014.11.024. Epub 2014 Dec 9.

17.

A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.

Liu SG, Li FF, Huang SZ, Chen Y, Wang J, Lu DG, Zhang M, Ma X.

Genet Test. 2007 Winter;11(4):445-9. doi: 10.1089/gte.2007.0035.

PMID:
18294062
18.

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.

19.

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

Li Y, Wang J, Wang Z, Tang J, Yu T.

BMC Med Genet. 2017 Nov 10;18(1):126. doi: 10.1186/s12881-017-0488-2.

20.

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.

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