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Results: 1 to 20 of 42

1.

Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, Cano A, Labauge P, Paquis-Flucklinger V.

Ann Neurol. 2011 Mar;69(3):501-8. doi: 10.1002/ana.22160. Epub 2010 Dec 28.

PMID:
21446023
[PubMed - indexed for MEDLINE]
2.

Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.

Waschbisch A, Volbers B, Struffert T, Hoyer J, Schwab S, Bardutzky J.

J Neurol Sci. 2011 Jan 15;300(1-2):191-3. doi: 10.1016/j.jns.2010.08.044. Epub 2010 Sep 28.

PMID:
20875904
[PubMed - indexed for MEDLINE]
3.

Wolfram syndrome and WFS1 gene.

Rigoli L, Lombardo F, Di Bella C.

Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004.2010.01522.x. Epub 2010 Aug 26. Review.

PMID:
20738327
[PubMed - indexed for MEDLINE]
4.

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.

Fonseca SG, Ishigaki S, Oslowski CM, Lu S, Lipson KL, Ghosh R, Hayashi E, Ishihara H, Oka Y, Permutt MA, Urano F.

J Clin Invest. 2010 Mar;120(3):744-55. doi: 10.1172/JCI39678. Epub 2010 Feb 15.

PMID:
20160352
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Rolandsson O, Daly A, Wasson J, Permutt A, Hattersley AT, Glaser B, Franks PW, McCarthy MI, Wareham NJ, Sandhu MS, Barroso I.

Diabetes. 2010 Mar;59(3):741-6. doi: 10.2337/db09-0920. Epub 2009 Dec 22.

PMID:
20028947
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.

Kumar S.

Pediatr Diabetes. 2010 Feb;11(1):28-37. doi: 10.1111/j.1399-5448.2009.00518.x. Epub 2009 Dec 14. Review. No abstract available.

PMID:
20015125
[PubMed - indexed for MEDLINE]
7.

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Gasparin MR, Crispim F, Paula SL, Freire MB, Dalbosco IS, Manna TD, Salles JE, Gasparin F, Guedes A, Marcantonio JM, Gambini M, Salim CP, Moisés RS.

Eur J Endocrinol. 2009 Feb;160(2):309-16. doi: 10.1530/EJE-08-0698. Epub 2008 Nov 28.

PMID:
19042979
[PubMed - indexed for MEDLINE]
Free Article
8.

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 15;17(24):4012-21. doi: 10.1093/hmg/ddn304. Epub 2008 Sep 20.

PMID:
18806274
[PubMed - indexed for MEDLINE]
Free Article
9.

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.

d'Annunzio G, Minuto N, D'Amato E, de Toni T, Lombardo F, Pasquali L, Lorini R.

Diabetes Care. 2008 Sep;31(9):1743-5. doi: 10.2337/dc08-0178. Epub 2008 Jun 19.

PMID:
18566338
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey.

Yamamoto H, Hofmann S, Hamasaki DI, Yamamoto H, Kreczmanski P, Schmitz C, Parel JM, Schmidt-Kastner R.

Exp Eye Res. 2006 Nov;83(5):1303-6. Epub 2006 Aug 22.

PMID:
16928372
[PubMed - indexed for MEDLINE]
11.

Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis.

Riggs AC, Bernal-Mizrachi E, Ohsugi M, Wasson J, Fatrai S, Welling C, Murray J, Schmidt RE, Herrera PL, Permutt MA.

Diabetologia. 2005 Nov;48(11):2313-21. Epub 2005 Oct 8.

PMID:
16215705
[PubMed - indexed for MEDLINE]
12.

Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells.

Philbrook C, Fritz E, Weiher H.

Exp Gerontol. 2005 Aug-Sep;40(8-9):671-8.

PMID:
16087305
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
15605410
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
15503287
[PubMed - indexed for MEDLINE]
15.

Phenotype-genotype correlations in a series of wolfram syndrome families.

Smith CJ, Crock PA, King BR, Meldrum CJ, Scott RJ.

Diabetes Care. 2004 Aug;27(8):2003-9.

PMID:
15277431
[PubMed - indexed for MEDLINE]
16.

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G.

J Clin Endocrinol Metab. 2004 Apr;89(4):1656-61.

PMID:
15070927
[PubMed - indexed for MEDLINE]
17.

Wolfram syndrome.

Megighian D, Savastano M.

Int J Pediatr Otorhinolaryngol. 2004 Feb;68(2):243-7.

PMID:
14725994
[PubMed - indexed for MEDLINE]
18.

Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.

Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M.

J Biol Chem. 2003 Dec 26;278(52):52755-62. Epub 2003 Oct 3.

PMID:
14527944
[PubMed - indexed for MEDLINE]
Free Article
19.

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. Review.

PMID:
12955714
[PubMed - indexed for MEDLINE]
20.

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

Hofmann S, Philbrook C, Gerbitz KD, Bauer MF.

Hum Mol Genet. 2003 Aug 15;12(16):2003-12.

PMID:
12913071
[PubMed - indexed for MEDLINE]
Free Article

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