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Page 1
Clinical features of DFNA5.
De Leenheer EM, van Zuijlen DA, Van Laer L, Van Camp G, Huygen PL, Huizing EH, Cremers CW. De Leenheer EM, et al. Among authors: van laer l, van zuijlen da, van camp g. Adv Otorhinolaryngol. 2002;61:53-9. doi: 10.1159/000066800. Adv Otorhinolaryngol. 2002. PMID: 12408063 No abstract available.
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al. van Camp G, et al. Among authors: van de bilt c, van laer l, van velzen d. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.
Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P. Van Laer L, et al. Among authors: van de heyning p, van camp g, van zuijlen d. Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405. Eur J Hum Genet. 1997. PMID: 9450185
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Van Laer L, et al. Among authors: van de heyning p, van zuijlen d, van camp g. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G. Verhoeven K, et al. Among authors: van laer l, van de heyning p, van camp g. Eur J Hum Genet. 1999 Jan;7(1):45-51. doi: 10.1038/sj.ejhg.5200247. Eur J Hum Genet. 1999. PMID: 10094190
Autosomal dominant nonsyndromic hearing impairment.
Van Laer L, McGuirt WT, Yang T, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: van camp g. Am J Med Genet. 1999 Sep 24;89(3):167-74. doi: 10.1002/(sici)1096-8628(19990924)89:3<167::aid-ajmg7>3.3.co;2-m. Am J Med Genet. 1999. PMID: 10704191 Review.
DFNA 2, 5, 8, 12.
Van Camp G, Coucke PJ, Van Hauwe P, Van Laer L, Verhoeven K, Wuyts F, Smith RJ. Van Camp G, et al. Among authors: van laer l, van hauwe p. Adv Otorhinolaryngol. 2000;56:68-77. doi: 10.1159/000059084. Adv Otorhinolaryngol. 2000. PMID: 10868216 Review. No abstract available.
177 results