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Journal Abstract Search

453 related items for PubMed ID: 11317350

  • 1. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
    Khanim F, Kirk J, Latif F, Barrett TG.
    Hum Mutat; 2001 May; 17(5):357-67. PubMed ID: 11317350
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 12955714
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  • 4. 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. PubMed ID: 11161832
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  • 5. 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. PubMed ID: 15605410
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  • 9. [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. PubMed ID: 12058630
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  • 10. 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. PubMed ID: 10679252
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  • 11. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
    Domènech E, Gómez-Zaera M, Nunes V.
    Clin Genet; 2004 Jun 16; 65(6):463-9. PubMed ID: 15151504
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  • 12. Wolframin mutations and hospitalization for psychiatric illness.
    Swift M, Swift RG.
    Mol Psychiatry; 2005 Aug 16; 10(8):799-803. PubMed ID: 15852062
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  • 13. [Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis].
    Tanizawa Y.
    Rinsho Byori; 2003 Jun 16; 51(6):544-9. PubMed ID: 12884741
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  • 14. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.
    Blanco-Aguirre ME, la Parra DR, Tapia-Garcia H, Gonzalez-Rodriguez J, Welschen D, Arroyo-Yllanes ME, Escudero I, Nuñez-Hernandez JA, Medina-Bravo P, Zenteno JC.
    Gene; 2015 Jul 15; 566(1):63-7. PubMed ID: 25895475
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  • 15. 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 15; 24(10):787-9. PubMed ID: 15503287
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  • 16. [Wolfram syndrome: clinical and genetic analysis in two sisters].
    Conart JB, Maalouf T, Jonveaux P, Guerci B, Angioi K.
    J Fr Ophtalmol; 2011 Oct 15; 34(8):543-6. PubMed ID: 21632151
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  • 17. WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
    Domènech E, Gómez-Zaera M, Nunes V.
    Eur J Hum Genet; 2002 Jul 15; 10(7):421-6. PubMed ID: 12107816
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  • 18. Wolfram syndrome and WFS1 gene.
    Rigoli L, Lombardo F, Di Bella C.
    Clin Genet; 2011 Feb 15; 79(2):103-17. PubMed ID: 20738327
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  • 19. Wolfram syndrome 1 and Wolfram syndrome 2.
    Rigoli L, Di Bella C.
    Curr Opin Pediatr; 2012 Aug 15; 24(4):512-7. PubMed ID: 22790102
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  • 20. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.
    Domenech E, Gomez-Zaera M, Nunes V.
    Pediatr Endocrinol Rev; 2006 Mar 15; 3(3):249-57. PubMed ID: 16639390
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