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Journal Abstract Search

474 related items for PubMed ID: 20738327

  • 1. Wolfram syndrome and WFS1 gene.
    Rigoli L, Lombardo F, Di Bella C.
    Clin Genet; 2011 Feb; 79(2):103-17. PubMed ID: 20738327
    [Abstract] [Full Text] [Related]

  • 2. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
    Tanabe K, Matsunaga K, Hatanaka M, Akiyama M, Tanizawa Y.
    Nihon Rinsho; 2015 Feb; 73(2):341-9. PubMed ID: 25764693
    [Abstract] [Full Text] [Related]

  • 3. 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. PubMed ID: 16639390
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  • 4. [Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis].
    Tanizawa Y.
    Rinsho Byori; 2003 Jun; 51(6):544-9. PubMed ID: 12884741
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  • 5. [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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  • 6. Wolfram syndrome 1 and Wolfram syndrome 2.
    Rigoli L, Di Bella C.
    Curr Opin Pediatr; 2012 Aug 25; 24(4):512-7. PubMed ID: 22790102
    [Abstract] [Full Text] [Related]

  • 7. Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.
    Sobhani M, Tabatabaiefar MA, Rajab A, Kajbafzadeh AM, Noori-Daloii MR.
    Gene; 2013 Oct 10; 528(2):309-13. PubMed ID: 23845777
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  • 9. WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
    Domènech E, Gómez-Zaera M, Nunes V.
    Eur J Hum Genet; 2002 Jul 10; 10(7):421-6. PubMed ID: 12107816
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  • 12. [Wolfram syndrome: from definition to molecular bases].
    Ribeiro MR, Crispim F, Vendramini MF, Moisés RS.
    Arq Bras Endocrinol Metabol; 2006 Oct 10; 50(5):839-44. PubMed ID: 17160206
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  • 13. 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 10; 21(6):622-9. PubMed ID: 12754709
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  • 14. 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 10; 72(1):72-81. PubMed ID: 11161832
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  • 16. Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells.
    Hatanaka M, Tanabe K, Yanai A, Ohta Y, Kondo M, Akiyama M, Shinoda K, Oka Y, Tanizawa Y.
    Hum Mol Genet; 2011 Apr 01; 20(7):1274-84. PubMed ID: 21199859
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  • 19. Teaching NeuroImages: a neuroendocrine rarity: Wolfram syndrome.
    Vale TC, Perpétuo FO.
    Neurology; 2013 Nov 12; 81(20):e153. PubMed ID: 24218323
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