These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

261 related items for PubMed ID: 12107816

  • 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. PubMed ID: 12107816
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 15151504
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 11161832
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 12058630
    [Abstract] [Full Text] [Related]

  • 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 25; 21(6):622-9. PubMed ID: 12754709
    [Abstract] [Full Text] [Related]

  • 6. 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 25; 22(4):275-87. PubMed ID: 12955714
    [Abstract] [Full Text] [Related]

  • 7. 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 25; 24(10):787-9. PubMed ID: 15503287
    [Abstract] [Full Text] [Related]

  • 8. [Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis].
    Tanizawa Y.
    Rinsho Byori; 2003 Jun 25; 51(6):544-9. PubMed ID: 12884741
    [Abstract] [Full Text] [Related]

  • 9. 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 25; 13(12):1275-84. PubMed ID: 16151413
    [Abstract] [Full Text] [Related]

  • 10. A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour.
    Aluclu MU, Bahceci M, Tuzcu A, Arikan S, Gokalp D.
    Neuro Endocrinol Lett; 2006 Dec 25; 27(6):691-4. PubMed ID: 17187023
    [Abstract] [Full Text] [Related]

  • 11. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
    Khanim F, Kirk J, Latif F, Barrett TG.
    Hum Mutat; 2001 May 25; 17(5):357-67. PubMed ID: 11317350
    [Abstract] [Full Text] [Related]

  • 12. 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; 25(1):99-100. PubMed ID: 15605410
    [Abstract] [Full Text] [Related]

  • 13. Wolfram syndrome and WFS1 gene.
    Rigoli L, Lombardo F, Di Bella C.
    Clin Genet; 2011 Feb 25; 79(2):103-17. PubMed ID: 20738327
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 69(2):136-41. PubMed ID: 16005363
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.
    Domenech E, Gomez-Zaera M, Nunes V.
    Pediatr Endocrinol Rev; 2006 Mar 16; 3(3):249-57. PubMed ID: 16639390
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).
    Yuca SA, Rendtorff ND, Boulahbel H, Lodahl M, Tranebjærg L, Cesur Y, Dogan M, Yilmaz C, Akgun C, Acikgoz M.
    Eur J Med Genet; 2012 Jan 10; 55(1):37-42. PubMed ID: 21968327
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 14.