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Results: 1 to 20 of 238

1.

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W, Van Hul W.

Hum Mutat. 2000;15(3):220-7. Review.

PMID:
10679937
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
9463333
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
9326317
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.

Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y.

Am J Med Genet. 2001 Feb 15;99(1):59-62.

PMID:
11170095
[PubMed - indexed for MEDLINE]
7.

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

Gigante M, Matera MG, Seripa D, Izzo AM, Venanzi R, Giannotti A, Digilio MC, Gravina C, Lazzari M, Monteleone G, Monteleone M, Dallapiccola B, Fazio VM.

Int J Cancer. 2001 Nov 20;95(6):378-83.

PMID:
11668521
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
11432960
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Kojima H, Wada T, Seki H, Kubota T, Wakui K, Fukushima Y.

Genet Test. 2008 Dec;12(4):557-61. doi: 10.1089/gte.2008.0048.

PMID:
18976157
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
16638657
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

Raskind WH, Conrad EU 3rd, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J.

Hum Mutat. 1998;11(3):231-9.

PMID:
9521425
[PubMed - indexed for MEDLINE]
13.

EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.

Stickens D, Brown D, Evans GA.

Dev Dyn. 2000 Jul;218(3):452-64.

PMID:
10878610
[PubMed - indexed for MEDLINE]
Free Article
14.

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W.

Hum Mutat. 2009 Dec;30(12):1620-7. doi: 10.1002/humu.21123. Review.

PMID:
19810120
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Lüdecke HJ, Lovett M, Van Winkle WB, Hecht JT.

Cell Motil Cytoskeleton. 2001 Feb;48(2):149-62.

PMID:
11169766
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
19.

Identification of novel mutations in the human EXT1 tumor suppressor gene.

Wells DE, Hill A, Lin X, Ahn J, Brown N, Wagner MJ.

Hum Genet. 1997 May;99(5):612-5.

PMID:
9150727
[PubMed - indexed for MEDLINE]
20.

Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.

Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T.

Biochem Biophys Res Commun. 2000 Feb 24;268(3):860-7.

PMID:
10679296
[PubMed - indexed for MEDLINE]

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