Schrijver I: Hereditary non-syndromic sensorineural hearing loss. Transforming silence to sound. J Mol Diagn. 2004, 6: 275-284.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hereditary hearing loss homepage. [http://webhost.ua.ac.be/hhh/]
Petit C: From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med. 2006, 12: 57-64. 10.1016/j.molmed.2005.12.006.
Article
CAS
PubMed
Google Scholar
Bom SJ, Kunst HP, Huygen PL, Cremers FP, Cremers CW: Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. Br J Audiol. 1999, 33: 335-348.
Article
CAS
PubMed
Google Scholar
Gurtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Lalwani AK: DFNA54, a third locus for low-frequency hearing loss. J Mol Med. 2004, 82: 775-780. 10.1007/s00109-004-0597-1.
Article
PubMed
Google Scholar
Noguchi Y, Yashima T, Hatanaka A, Uzawa M, Yasunami M, Kimura A, Kitamura K: A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. Acta Otolaryngol. 2005, 125: 1189-94. 10.1080/00016480510044232.
Article
CAS
PubMed
Google Scholar
Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC: Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science. 1997, 278: 1315-1318. 10.1126/science.278.5341.1315.
Article
CAS
PubMed
Google Scholar
Bespalova IN, Van Camp G, Bom SJH, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HPM, Kurnool P, Sivakumaran TA, Cremers CWRJ, Leal SM, Burmeister M, Lesperance MM: Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001, 10: 2501-2508. 10.1093/hmg/10.22.2501.
Article
CAS
PubMed
Google Scholar
Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK, King M-C: Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet. 2001, 10: 2509-2514. 10.1093/hmg/10.22.2509.
Article
CAS
PubMed
Google Scholar
Lalwani AK, Jackler RK, Sweetow RW, Lynch ED, Raventos H, Morrow J, King MC, Leon PE: Further characterization of the DFNA1 audiovestibular phenotype. Arch Otolaryngol Head Neck Surg. 1998, 124: 699-702.
Article
CAS
PubMed
Google Scholar
Pennings RJ, Bom SJH, Cryns K, Flothmann K, Huygen PLM, Kremer H, Van Camp G, Cremers CWRJ: Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). Arch Otolaryngol Head Neck Surg. 2003, 129: 421-426. 10.1001/archotol.129.4.421.
Article
PubMed
Google Scholar
Kawamoto T, Horikawa Y, Tanaka T, Kabe N, Takeda J, Mikuni M: Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder. Mol Genet Metab. 2004, 82: 238-245. 10.1016/j.ymgme.2004.04.012.
Article
CAS
PubMed
Google Scholar
Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T: Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998, 7: 2021-2028. 10.1093/hmg/7.13.2021.
Article
CAS
PubMed
Google Scholar
Pennings RJ, Huygen PL, Van den Ouweland JM, Cryns K, Dikkeschei LD, Van Camp G, Cremers CWRJ: Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. Audiol Neurootol. 2004, 9: 51-62. 10.1159/000074187.
Article
PubMed
Google Scholar
Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJE, Cremers CWRJ, Flothmann K, Young T-L, Smith RJH, Lesperance MM, Van Camp G: Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat. 2003, 22: 275-287. 10.1002/humu.10258.
Article
CAS
PubMed
Google Scholar
Cryns K, Thys S, Van Laer L, Oka Y, Pfister M, Van Nassauw L, Smith RJH, Timmermans J-P, Van Camp G: The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol. 2003, 119: 247-256.
CAS
PubMed
Google Scholar
Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L: Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet. 2006, 43: 435-440. 10.1136/jmg.2005.034892.
Article
CAS
PubMed
PubMed Central
Google Scholar
Mchugh RK, Friedman RA: Genetics of hearing loss: allelism and modifier genes produce a phenotypic continuum. Anatom Rec Part A. 2006, 288 (4): 370-381. 10.1002/ar.a.20297.
Article
Google Scholar