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Items: 1 to 20 of 205

1.

Identification and functional characterization of the human EXT1 promoter region.

Jennes I, Zuntini M, Mees K, Palagani A, Pedrini E, De Cock G, Fransen E, Vanden Berghe W, Sangiorgi L, Wuyts W.

Gene. 2012 Jan 15;492(1):148-59. doi: 10.1016/j.gene.2011.10.034. Epub 2011 Oct 19.

PMID:
22037484
2.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

Jennes I, de Jong D, Mees K, Hogendoorn PC, Szuhai K, Wuyts W.

BMC Med Genet. 2011 Jun 26;12:85. doi: 10.1186/1471-2350-12-85.

3.

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
4.

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
5.
6.

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
7.

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
8.

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
9.

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells.

Ropero S, Setien F, Espada J, Fraga MF, Herranz M, Asp J, Benassi MS, Franchi A, Patiño A, Ward LS, Bovee J, Cigudosa JC, Wim W, Esteller M.

Hum Mol Genet. 2004 Nov 15;13(22):2753-65. Epub 2004 Sep 22.

PMID:
15385438
10.

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
11.

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.

12.

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.

13.

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.

14.

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.

Ann Hum Genet. 2009 May;73(Pt 3):283-91. doi: 10.1111/j.1469-1809.2009.00508.x. Epub 2009 Mar 25.

15.
16.

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
17.

[From gene to disease; hereditary multiple exostoses].

Wuyts W, Bovée JV, Hogendoorn PC.

Ned Tijdschr Geneeskd. 2002 Jan 26;146(4):162-4. Review. Dutch.

PMID:
11845565
18.

Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.

Busse M, Feta A, Presto J, Wilén M, Grønning M, Kjellén L, Kusche-Gullberg M.

J Biol Chem. 2007 Nov 9;282(45):32802-10. Epub 2007 Aug 29.

19.

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
20.

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

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