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Results: 1-10 |
Results: 10
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)
Authors: De Leenheer, EMR Kunst, HPM McGuirt, WT Prasad, SD Brown, MR Huygen, PLM Smith, RJH Cremers, WRJ
Citation: Emr. De Leenheer et al., Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13), ARCH OTOLAR, 127(1), 2001, pp. 13-17
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
Authors: Fransen, E Verstreken, M Bom, SJH Lemaire, F Kemperman, MH De Kok, YJM Wuyts, FL Verhagen, WIM Huygen, PLM McGuirt, WT Smith, RJH Van Maldergem, L Declau, F Cremers, CWRJ Van de Heyning, PH Cremers, FPM Van Camp, G
Citation: E. Fransen et al., A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation, J MED GENET, 38(1), 2001, pp. 61-64
Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13
Authors: McGuirt, WT Lesperance, MM Wilcox, ER Chen, AH Van Camp, G Smith, RJH
Citation: Wt. Mcguirt et al., Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13, ADV OTO-RH, 56, 2000, pp. 84-96
DFNB15: Autosomal recessive non-syndromic hearing loss gene chromosome 3q,19p or digenic recessive inheritance?
Authors: Chen, AH Fukushima, K McGuirt, WT Smith, RJH
Citation: Ah. Chen et al., DFNB15: Autosomal recessive non-syndromic hearing loss gene chromosome 3q,19p or digenic recessive inheritance?, ADV OTO-RH, 56, 2000, pp. 171-175
Temporal bone histopathology in connexin 26-related hearing loss
Authors: Jun, AI McGuirt, WT Hinojosa, R Green, GE Fischel-Ghodsian, N Smith, RJH
Citation: Ai. Jun et al., Temporal bone histopathology in connexin 26-related hearing loss, LARYNGOSCOP, 110(2), 2000, pp. 269-275
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
Authors: McGuirt, WT Prasad, SD Griffith, AJ Kunst, HPM Green, GE Shpargel, KB Runge, C Huybrechts, C Mueller, RF Lynch, E King, MC Brunner, HG Cremers, CWRJ Takanosu, M Li, SW Arita, M Mayne, R Prockop, DJ Van Camp, G Smith, RJH
Citation: Wt. Mcguirt et al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), NAT GENET, 23(4), 1999, pp. 413-419
High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene
Authors: Fransen, E Verstreken, M Verhagen, WIM Wuyts, FL Huygen, PLM D'Haese, P Robertson, NG Morton, CC McGuirt, WT Smith, RJH Declau, F Van de Heyning, PH Van Camp, G
Citation: E. Fransen et al., High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene, HUM MOL GEN, 8(8), 1999, pp. 1425-1429
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
Authors: Coucke, PJ Van Hauwe, P Kelley, PM Kunst, H Schatteman, I Van Velzen, D Meyers, J Ensink, RJ Verstreken, M Declau, F Marres, H Kastury, K Bhasin, S McGuirt, WT Smith, RJH Cremers, CWRJ Van de Heyning, P Willems, PJ Smith, SD Van Camp, G
Citation: Pj. Coucke et al., Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families, HUM MOL GEN, 8(7), 1999, pp. 1321-1328
Autosomal dominant nonsyndromic hearing impairment
Authors: Van Laer, L McGuirt, WT Yang, T Smith, RJH Van Camp, G
Citation: L. Van Laer et al., Autosomal dominant nonsyndromic hearing impairment, AM J MED G, 89(3), 1999, pp. 167-174
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3
Authors: Fukushima, K Kasai, N Ueki, Y Nishizaki, K Sugata, K Hirakawa, S Masuda, A Gunduz, M Ninomiya, Y Masuda, Y Sato, M McGuirt, WT Coucke, P Van Camp, G Smith, RJH
Citation: K. Fukushima et al., A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3, AM J HU GEN, 65(1), 1999, pp. 141-150
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