BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 10679252)

  • 1. 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; 268(2):612-6. PubMed ID: 10679252
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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; 146(21):985-7. PubMed ID: 12058630
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Wolfram syndrome 1 and Wolfram syndrome 2.
    Rigoli L; Di Bella C
    Curr Opin Pediatr; 2012 Aug; 24(4):512-7. PubMed ID: 22790102
    [TBL] [Abstract][Full Text] [Related]  

  • 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;
    Hum Mutat; 2005 Jan; 25(1):99-100. PubMed ID: 15605410
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 12955714
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 12754709
    [TBL] [Abstract][Full Text] [Related]  

  • 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(7):421-6. PubMed ID: 12107816
    [TBL] [Abstract][Full Text] [Related]  

  • 10. WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
    Zalloua PA; Azar ST; Delépine M; Makhoul NJ; Blanc H; Sanyoura M; Lavergne A; Stankov K; Lemainque A; Baz P; Julier C
    Hum Mol Genet; 2008 Dec; 17(24):4012-21. PubMed ID: 18806274
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 9771706
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
    Kawamoto T; Horikawa Y; Tanaka T; Kabe N; Takeda J; Mikuni M
    Mol Genet Metab; 2004 Jul; 82(3):238-45. PubMed ID: 15234338
    [TBL] [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; 69(2):136-41. PubMed ID: 16005363
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 528(2):309-13. PubMed ID: 23845777
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 55(1):37-42. PubMed ID: 21968327
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.
    Bansal V; Boehm BO; Darvasi A
    Diabetologia; 2018 Oct; 61(10):2180-2188. PubMed ID: 30014265
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. 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. PubMed ID: 16151413
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies.
    Nakamura A; Shimizu C; Nagai S; Taniguchi S; Umetsu M; Atsumi T; Wada N; Yoshioka N; Ono Y; Tanizawa Y; Koike T
    Diabetes Res Clin Pract; 2006 Aug; 73(2):215-7. PubMed ID: 16442662
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.