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    Results: 1 to 20 of 106

    1.

    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

    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.

    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

    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 [PubMed - indexed for MEDLINE]Related articles

    5.

    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

    6.

    [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

    7.

    Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.

    El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K.

    Am J Hum Genet. 2000 Apr;66(4):1229-36. Epub 2000 Mar 14.PMID: 10739754 [PubMed - indexed for MEDLINE]Related articlesFree article

    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.

    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

    10.

    [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. PMID: 17160206 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    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

    12.

    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

    13.

    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

    14.

    Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.

    Domenech E, Gomez-Zaera M, Nunes V.

    Pediatr Endocrinol Rev. 2006 Mar;3(3):249-57. Review.PMID: 16639390 [PubMed - indexed for MEDLINE]Related articles

    15.

    The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

    Hong J, Zhang YW, Zhang HJ, Jia HY, Zhang Y, Ding XY, Zhou DY, Chen HP, Jiang XH, Cui B, Li XY, Ning G.

    Endocrine. 2009 Apr;35(2):151-7. Epub 2009 Jan 22.PMID: 19160074 [PubMed - indexed for MEDLINE]Related articles

    16.

    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

    17.

    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

    18.

    [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

    19.

    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

    20.

    Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

    Barrett TG, Bundey SE, Macleod AF.

    Lancet. 1995 Dec 2;346(8988):1458-63.PMID: 7490992 [PubMed - indexed for MEDLINE]Related articles

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