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Results: 1 to 20 of 106

1.

Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.

Xu Q, Qu H, Wei S.

Mol Med Rep. 2013 Mar;7(3):965-8. doi: 10.3892/mmr.2013.1277. Epub 2013 Jan 17.

PMID:
23338790
[PubMed - indexed for MEDLINE]
2.

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

Zenteno JC, Ruiz G, Pérez-Cano HJ, Camargo M.

Mol Vis. 2008 Jul 25;14:1353-7.

PMID:
18660851
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Hong J, Zhang YW, Zhang HJ, Jia HY, Zhang Y, Ding XY, Zhou DY, Chen HP, Jiang XH, Cui B, Li XY, Ning G.

Endocrine. 2009 Apr;35(2):151-7. doi: 10.1007/s12020-009-9145-7. Epub 2009 Jan 22.

PMID:
19160074
[PubMed - indexed for MEDLINE]
4.

Molecular characterization of WFS1 in patients with Wolfram syndrome.

van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD.

J Mol Diagn. 2003 May;5(2):88-95.

PMID:
12707373
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

PMID:
11709538
[PubMed - indexed for MEDLINE]
Free Article
6.

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. doi: 10.1016/j.gene.2013.06.040. Epub 2013 Jul 8.

PMID:
23845777
[PubMed - indexed for MEDLINE]
7.

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

Lieber DS, Vafai SB, Horton LC, Slate NG, Liu S, Borowsky ML, Calvo SE, Schmahmann JD, Mootha VK.

BMC Med Genet. 2012 Jan 6;13:3. doi: 10.1186/1471-2350-13-3.

PMID:
22226368
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.

Titah SM, Meunier I, Blanchet C, Lopez S, Rondouin G, Lenaers G, Amati-Bonneau P, Reynier P, Paquis-Flucklinger V, Hamel CP.

Eur J Ophthalmol. 2012 Mar-Apr;22(2):254-8. doi: 10.5301/EJO.2011.8370.

PMID:
21623591
[PubMed - indexed for MEDLINE]
9.

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]
10.

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T.

Am J Hum Genet. 1999 Nov;65(5):1279-90.

PMID:
10521293
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

Ganie MA, Laway BA, Nisar S, Wani MM, Khurana ML, Ahmad F, Ahmed S, Gupta P, Ali I, Shabir I, Shadan A, Ahmed A, Tufail S.

Diabet Med. 2011 Nov;28(11):1337-42. doi: 10.1111/j.1464-5491.2011.03377.x.

PMID:
21726277
[PubMed - indexed for MEDLINE]
13.

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.

Haghighi A, Haghighi A, Setoodeh A, Saleh-Gohari N, Astuti D, Barrett TG.

Eur J Hum Genet. 2013 Mar;21(3):347-51. doi: 10.1038/ejhg.2012.154. Epub 2012 Jul 11.

PMID:
22781099
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[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. doi: 10.1016/j.jfo.2011.02.014. Epub 2011 May 31. French.

PMID:
21632151
[PubMed - indexed for MEDLINE]
Free Article
15.

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.

Pitt K, James C, Kochar IS, Kapoor A, Jain S, Hussain K, Bennett K.

J Pediatr Endocrinol Metab. 2011;24(5-6):389-91.

PMID:
21823543
[PubMed - indexed for MEDLINE]
16.

[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].

Fang QC, Jia WP, Zhang R, Li Q, Hu C, Shao XY, Chai HQ, Lu HJ, Xiang KS.

Zhonghua Yi Xue Za Zhi. 2005 Sep 14;85(35):2468-71. Chinese.

PMID:
16321270
[PubMed - indexed for MEDLINE]
17.

[Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis].

Tanizawa Y.

Rinsho Byori. 2003 Jun;51(6):544-9. Review. Japanese.

PMID:
12884741
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
12754709
[PubMed - indexed for MEDLINE]
19.

[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. Review. Dutch.

PMID:
12058630
[PubMed - indexed for MEDLINE]
20.

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]

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