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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. Cryns K, et al. Among authors: flothmann k. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007
Is DFNA5 a susceptibility gene for age-related hearing impairment?
Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT. Van Laer L, et al. Among authors: flothmann k. Eur J Hum Genet. 2002 Dec;10(12):883-6. doi: 10.1038/sj.ejhg.5200878. Eur J Hum Genet. 2002. PMID: 12461698
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. Pennings RJ, et al. Among authors: flothmann k. Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):421-6. doi: 10.1001/archotol.129.4.421. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12707188
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. Bespalova IN, et al. Among authors: flothmann k. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. Hum Mol Genet. 2001. PMID: 11709537 Free PMC article.
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: flothmann k. J Med Genet. 2001 Aug;38(8):515-8. doi: 10.1136/jmg.38.8.515. J Med Genet. 2001. PMID: 11483639 Free PMC article.
14 results