Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 94

1.

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.

Papadimitriou DT, Manolakos E, Bothou C, Zoupanos G, Papoulidis I, Orru S, Skarmoutsos F, Delides A, Bakoula C, Papadimitriou A, Urano F.

Diabetes Metab. 2015 Nov;41(5):433-5. doi: 10.1016/j.diabet.2015.06.003. Epub 2015 Jul 10. No abstract available.

PMID:
26169481
2.

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
3.

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. doi: 10.1016/j.ejmg.2011.08.005. Epub 2011 Sep 23.

PMID:
21968327
4.

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

Ghirardello S, Dusi E, Castiglione B, Fumagalli M, Mosca F.

Ital J Pediatr. 2014 Sep 26;40:76. doi: 10.1186/s13052-014-0076-4.

5.

A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.

Elli FM, Ghirardello S, Giavoli C, Gangi S, Dioni L, Crippa M, Finelli P, Bergamaschi S, Mosca F, Spada A, Beck-Peccoz P.

Gene. 2012 Nov 1;509(1):168-72. doi: 10.1016/j.gene.2012.06.077. Epub 2012 Jul 4.

PMID:
22771918
6.

[Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic low frequency sensorineural hearing loss].

Shi SM, Han YH, Wang HB.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Sep 7;51(9):712-715. doi: 10.3760/cma.j.issn.1673-0860.2016.09.019. Chinese.

PMID:
27666717
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. Review.

PMID:
12955714
8.

[Familial Wolfram syndrome].

Bessahraoui M, Paquis V, Rouzier C, Bouziane-Nedjadi K, Naceur M, Niar S, Zennaki A, Boudraa G, Touhami M.

Arch Pediatr. 2014 Nov;21(11):1229-32. doi: 10.1016/j.arcped.2014.08.017. Epub 2014 Oct 2. French.

PMID:
25282462
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.

10.

[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
11.

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.

Li M, Liu J, Yi H, Xu L, Zhong X, Peng F.

BMC Pediatr. 2018 Mar 17;18(1):116. doi: 10.1186/s12887-018-1091-1.

12.

[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
13.

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
14.

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
15.

c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

Safarpour Lima B, Ghaedi H, Daftarian N, Ahmadieh H, Jamshidi J, Khorrami M, Noroozi R, Sohrabifar N, Assarzadegan F, Hesami O, Taghavi S, Ahmadifard A, Atakhorrami M, Rahimi-Aliabadi S, Shahmohammadibeni N, Alehabib E, Andarva M, Darvish H, Emamalizadeh B.

Eur J Med Genet. 2016 Feb;59(2):65-9. doi: 10.1016/j.ejmg.2016.01.001. Epub 2016 Jan 7.

PMID:
26773575
16.

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
17.

[Positional cloning of the gene(WFS1) for Wolfram syndrome].

Tanizawa Y, Inoue H, Oka Y.

Rinsho Byori. 2000 Oct;48(10):941-7. Japanese.

PMID:
11215108
18.

[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].

Tanabe K, Matsunaga K, Hatanaka M, Akiyama M, Tanizawa Y.

Nihon Rinsho. 2015 Feb;73(2):341-9. Review. Japanese.

PMID:
25764693
19.

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

Tsai HT, Wang YP, Chung SF, Lin HC, Ho GM, Shu MT.

BMC Med Genet. 2007 May 22;8:26.

20.

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.

Supplemental Content

Support Center