448 related articles for article (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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
3. 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]
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
[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. 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]
7. 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; 27(6):691-4. PubMed ID: 17187023
[TBL] [Abstract][Full Text] [Related]
8. 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]
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; 146(21):985-7. PubMed ID: 12058630
[TBL] [Abstract][Full Text] [Related]
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; 268(2):612-6. PubMed ID: 10679252
[TBL] [Abstract][Full Text] [Related]
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; 65(6):463-9. PubMed ID: 15151504
[TBL] [Abstract][Full Text] [Related]
12. Wolframin mutations and hospitalization for psychiatric illness.
Swift M; Swift RG
Mol Psychiatry; 2005 Aug; 10(8):799-803. PubMed ID: 15852062
[TBL] [Abstract][Full Text] [Related]
13. [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]
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; 566(1):63-7. PubMed ID: 25895475
[TBL] [Abstract][Full Text] [Related]
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; 24(10):787-9. PubMed ID: 15503287
[TBL] [Abstract][Full Text] [Related]
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; 34(8):543-6. PubMed ID: 21632151
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Wolfram syndrome and WFS1 gene.
Rigoli L; Lombardo F; Di Bella C
Clin Genet; 2011 Feb; 79(2):103-17. PubMed ID: 20738327
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]