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Items: 1 to 20 of 182

1.

WFS1 mutations in Spanish patients with diabetes mellitus and deafness.

Domènech E, Gómez-Zaera M, Nunes V.

Eur J Hum Genet. 2002 Jul;10(7):421-6.

2.

Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.

Domènech E, Gómez-Zaera M, Nunes V.

Clin Genet. 2004 Jun;65(6):463-9.

PMID:
15151504
3.

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

Gómez-Zaera M, Strom TM, Rodríguez B, Estivill X, Meitinger T, Nunes V.

Mol Genet Metab. 2001 Jan;72(1):72-81.

PMID:
11161832
4.

[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)].

Pennings RJ, Dikkeschei LD, Cremers CW, van den Ouweland JM.

Ned Tijdschr Geneeskd. 2002 May 25;146(21):985-7. Review. Dutch.

PMID:
12058630
5.

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro DC, Dallapiccola B.

Hum Mutat. 2003 Jun;21(6):622-9.

PMID:
12754709
6.

The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.

Martorell L, Zaera MG, Valero J, Serrano D, Figuera L, Joven J, Labad A, Vilella E, Nunes V.

Psychiatr Genet. 2003 Mar;13(1):29-32.

PMID:
12605098
7.

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G.

Hum Mutat. 2003 Oct;22(4):275-87. Review.

PMID:
12955714
8.

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.

Domènech E, Kruyer H, Gómez C, Calvo MT, Nunes V.

Prenat Diagn. 2004 Oct;24(10):787-9.

PMID:
15503287
9.

[Positional cloning of the gene(WFS1) for Wolfram syndrome].

Tanizawa Y, Inoue H, Oka Y.

Rinsho Byori. 2000 Oct;48(10):941-7. Japanese.

PMID:
11215108
10.

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T.

Am J Hum Genet. 1999 Nov;65(5):1279-90.

11.

[Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis].

Tanizawa Y.

Rinsho Byori. 2003 Jun;51(6):544-9. Review. Japanese.

PMID:
12884741
12.

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T.

Eur J Hum Genet. 2005 Dec;13(12):1275-84.

13.
14.

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

Khanim F, Kirk J, Latif F, Barrett TG.

Hum Mutat. 2001 May;17(5):357-67. Review.

PMID:
11317350
15.

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS..

Hum Mutat. 2005 Jan;25(1):99-100.

PMID:
15605410
16.

Molecular characterization of WFS1 in patients with Wolfram syndrome.

van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD.

J Mol Diagn. 2003 May;5(2):88-95.

17.

[Wolfram syndrome: from definition to molecular bases].

Ribeiro MR, Crispim F, Vendramini MF, Moisés RS.

Arq Bras Endocrinol Metabol. 2006 Oct;50(5):839-44. Review. Portuguese.

18.

Wolfram syndrome and WFS1 gene.

Rigoli L, Lombardo F, Di Bella C.

Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004.2010.01522.x. Review.

PMID:
20738327
19.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

PMID:
11709538
20.

Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.

Inukai K, Awata T, Inoue K, Kurihara S, Nakashima Y, Watanabe M, Sawa T, Takata N, Katayama S.

Diabetes Res Clin Pract. 2005 Aug;69(2):136-41.

PMID:
16005363
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