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    Results: 1 to 20 of 203

    1.

    Phenotype-genotype correlations in a series of wolfram syndrome families.

    Smith CJ, Crock PA, King BR, Meldrum CJ, Scott RJ.

    Diabetes Care. 2004 Aug;27(8):2003-9.PMID: 15277431 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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.PMID: 12707373 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

    Gasparin MR, Crispim F, Paula SL, Freire MB, Dalbosco IS, Manna TD, Salles JE, Gasparin F, Guedes A, Marcantonio JM, Gambini M, Salim CP, Moisés RS.

    Eur J Endocrinol. 2009 Feb;160(2):309-16. Epub 2008 Nov 28.PMID: 19042979 [PubMed - indexed for MEDLINE]Related articles

    4.

    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.PMID: 10521293 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    [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 [PubMed - indexed for MEDLINE]Related articles

    6.

    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 [PubMed - indexed for MEDLINE]Related articles

    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 [PubMed - indexed for MEDLINE]Related articles

    8.

    Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

    Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome, Vialettes B.

    Am J Med Genet A. 2007 Jul 15;143A(14):1605-12.PMID: 17568405 [PubMed - indexed for MEDLINE]Related articles

    9.

    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 [PubMed - indexed for MEDLINE]Related articles

    10.

    [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 [PubMed - indexed for MEDLINE]Related articles

    11.

    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 [PubMed - indexed for MEDLINE]Related articles

    12.

    Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.

    d'Annunzio G, Minuto N, D'Amato E, de Toni T, Lombardo F, Pasquali L, Lorini R.

    Diabetes Care. 2008 Sep;31(9):1743-5. Epub 2008 Jun 19.PMID: 18566338 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

    Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R.

    Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20.PMID: 17846994 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    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 [PubMed - indexed for MEDLINE]Related articles

    15.

    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.PMID: 16151413 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

    Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA.

    Nat Genet. 1998 Oct;20(2):143-8.PMID: 9771706 [PubMed - indexed for MEDLINE]Related articles

    17.

    Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.

    Awata T, Inoue K, Kurihara S, Ohkubo T, Inoue I, Abe T, Takino H, Kanazawa Y, Katayama S.

    Biochem Biophys Res Commun. 2000 Feb 16;268(2):612-6.PMID: 10679252 [PubMed - indexed for MEDLINE]Related articles

    18.

    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.PMID: 12107816 [PubMed - indexed for MEDLINE]Related articlesFree article

    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 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

    Zenteno JC, Ruiz G, Pérez-Cano HJ, Camargo M.

    Mol Vis. 2008 Jul 25;14:1353-7.PMID: 18660851 [PubMed - indexed for MEDLINE]Related articlesFree article

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