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Items: 1 to 20 of 133

1.

Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.

Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, Huebner A, Lee-Kirsch MA; Wolfram Syndrome Diabetes Writing Group.

Diabetes Care. 2011 Jul;34(7):1503-10. doi: 10.2337/dc10-1937. Epub 2011 May 20.

2.

Wolfram syndrome 1 and Wolfram syndrome 2.

Rigoli L, Di Bella C.

Curr Opin Pediatr. 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf. Review.

PMID:
22790102
3.

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
4.

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome, Vialettes B.

Am J Med Genet A. 2007 Jul 15;143A(14):1605-12.

PMID:
17568405
5.

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.

6.

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

Khanim F, Kirk J, Latif F, Barrett TG.

Hum Mutat. 2001 May;17(5):357-67. Review.

PMID:
11317350
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.

8.

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.

Zmyslowska A, Borowiec M, Antosik K, Szalecki M, Stefanski A, Iwaniszewska B, Jedrzejczyk M, Pietrzak I, Mlynarski W.

Clin Endocrinol (Oxf). 2011 Nov;75(5):636-41. doi: 10.1111/j.1365-2265.2011.04102.x.

PMID:
21564155
9.

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.

10.

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
11.

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 16;268(2):612-6.

PMID:
10679252
12.

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
13.

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

Matsunaga K, Tanabe K, Inoue H, Okuya S, Ohta Y, Akiyama M, Taguchi A, Kora Y, Okayama N, Yamada Y, Wada Y, Amemiya S, Sugihara S, Nakao Y, Oka Y, Tanizawa Y.

PLoS One. 2014 Sep 11;9(9):e106906. doi: 10.1371/journal.pone.0106906. eCollection 2014.

14.

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

de Heredia ML, Clèries R, Nunes V.

Genet Med. 2013 Jul;15(7):497-506. doi: 10.1038/gim.2012.180. Epub 2013 Feb 21.

PMID:
23429432
15.

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.

16.

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
17.

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
18.

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 15;566(1):63-7. doi: 10.1016/j.gene.2015.04.040. Epub 2015 Apr 17. Erratum in: Gene. 2015 Sep 1;568(2):227. Welskin, Daniela [corrected to Welschen, Daniela].

PMID:
25895475
19.

Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.

Rigoli L, Lombardo F, Salzano G, Di Bella C, Messina MF, De Luca F, Iafusco D.

Gene. 2013 Sep 10;526(2):487-9. doi: 10.1016/j.gene.2012.10.023. Epub 2012 Oct 26.

PMID:
23103830
20.

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
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