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Items: 1 to 20 of 411

1.

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.

2.

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
3.

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
4.

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].

5.

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
6.

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
7.

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
8.

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
9.

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.

10.

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Hildebrand MS, Sorensen JL, Jensen M, Kimberling WJ, Smith RJ.

Am J Med Genet A. 2008 Sep 1;146A(17):2258-65. doi: 10.1002/ajmg.a.32449.

11.

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.

12.

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
13.

[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].

Tóth T, Kupka S, Nürnberg P, Thiele H, Zenner HP, Sziklai I, Pfister M.

HNO. 2004 Feb;52(2):132-6. German.

PMID:
14968315
14.

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
15.

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

Gómez-Zaera M, Strom TM, Rodríguez B, Estivill X, Meitinger T, Nunes V.

Mol Genet Metab. 2001 Jan;72(1):72-81.

PMID:
11161832
16.

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

Bramhall NF, Kallman JC, Verrall AM, Street VA.

BMC Med Genet. 2008 Jun 2;9:48. doi: 10.1186/1471-2350-9-48.

17.

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.

Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Daniels R, Shelton C, Lalwani AK.

J Mol Med (Berl). 2005 Jul;83(7):553-60. Epub 2005 May 24.

PMID:
15912360
18.
19.

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L.

J Med Genet. 2006 May;43(5):435-40.

20.

Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3.

Brodwolf S, Böddeker IR, Ziegler A, Rausch P, Kunz J.

Clin Genet. 2001 Aug;60(2):155-60.

PMID:
11553051
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