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Items: 1 to 20 of 200

1.

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G.

Hum Genet. 2002 May;110(5):389-94. Epub 2002 Apr 9.

PMID:
12073007
2.

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM.

Hum Mol Genet. 2001 Oct 15;10(22):2501-8.

PMID:
11709537
3.

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
4.

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Fukuoka H, Kanda Y, Ohta S, Usami S.

J Hum Genet. 2007;52(6):510-5. Epub 2007 May 11.

PMID:
17492394
5.

Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.

Lesperance MM, Hall JW 3rd, San Agustin TB, Leal SM.

Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):411-20.

PMID:
12707187
6.

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
7.

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.

Kunz J, Marquez-Klaka B, Uebe S, Volz-Peters A, Berger R, Rausch P.

Mutat Res. 2003 Apr 9;525(1-2):121-4.

PMID:
12650912
8.

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].

Pennings RJ, Cryns K, Huygen PL, van Camp G, Cremers CW.

Ned Tijdschr Geneeskd. 2003 Nov 1;147(44):2170-2. Review. Dutch.

PMID:
14626834
9.

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K.

J Hum Genet. 2002;47(8):395-9.

PMID:
12181639
10.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.

Noguchi Y, Yashima T, Hatanaka A, Uzawa M, Yasunami M, Kimura A, Kitamura K.

Acta Otolaryngol. 2005 Nov;125(11):1189-94.

PMID:
16353398
11.

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.

Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B.

Diabet Med. 2008 Jun;25(6):657-61. doi: 10.1111/j.1464-5491.2008.02448.x.

PMID:
18544103
12.

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW.

Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):421-6.

PMID:
12707188
13.

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.

14.

Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.

Pennings RJ, Huygen PL, van den Ouweland JM, Cryns K, Dikkeschei LD, Van Camp G, Cremers CW.

Audiol Neurootol. 2004 Jan-Feb;9(1):51-62.

PMID:
14676474
15.

[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
16.

[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
17.

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

Sun Y, Cheng J, Lu Y, Li J, Lu Y, Jin Z, Dai P, Wang R, Yuan H.

J Genet Genomics. 2011 Feb;38(2):71-6. doi: 10.1016/j.jcg.2011.01.001. Epub 2011 Feb 23.

PMID:
21356526
18.

Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.

Tóth T, Pfister M, Zenner HP, Sziklai I.

Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):201-6. Epub 2005 Jul 25.

PMID:
16043233
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.

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

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