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Items: 1 to 20 of 100

1.

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.

Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA.

Am J Med Genet. 1998 Feb 17;75(5):538-40. No abstract available.

PMID:
9489802
3.

An R223P mutation in EXT2 gene causes hereditary multiple exostoses.

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

Hum Mutat. 2000 Apr;15(4):390-1. No abstract available.

PMID:
10738008
4.

A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.

Wolf M, Hemminki A, Kivioja A, Sistonen P, Kaitila I, Ervasti H, Kinnunen J, Karaharju E, Knuutila S.

Hum Mutat. 1998;12(5):362.

PMID:
10671060
5.

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.

6.

[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
7.

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.

Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA.

Nat Genet. 1996 Sep;14(1):25-32.

PMID:
8782816
8.

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
9.

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.

Am J Med Genet. 2002 Dec 15;113(4):326-32.

PMID:
12457403
10.

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

Hall CR, Wu Y, Shaffer LG, Hecht JT.

Clin Genet. 2001 Nov;60(5):356-9.

PMID:
11903336
11.

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
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.

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
14.

A sugar fix for bone tumours?

Stickens D, Evans GA.

Nat Genet. 1998 Jun;19(2):110-1. No abstract available.

PMID:
9620760
15.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.

Eur J Hum Genet. 2005 May;13(5):528-40.

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.

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

McGaughran JM, Ward HB, Evans DG.

J Med Genet. 1995 Oct;32(10):823-4. No abstract available.

18.

Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene.

Stickens D, Evans GA.

Biochem Mol Med. 1997 Jun;61(1):16-21.

PMID:
9232192
19.

Positional cloning of a gene involved in hereditary multiple exostoses.

Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ.

Hum Mol Genet. 1996 Oct;5(10):1547-57.

PMID:
8894688
20.

Human gene mutations. Gene symbol: EXT2. Disease: exostoses (multiple) 2.

Lin WD, Tsai CH, Chen CP, Tsai FJ.

Hum Genet. 2007 Sep;122(2):211. No abstract available.

PMID:
18386362
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