Developments in Genetic Hearing Impairment, Volume 1ISBN: 978-1-86156-058-2
Paperback
200 pages
January 2007
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Contributors.
Part I Gene therapy.
Chapter 1 Gene therapy for hearing disorders - AK Lalwani, GJ Carvalho, JJ Han and AN Mhatre.
Part II Radiology.
Chapter 2 Radiology of inner ear defects - PD Phelps.
Part III Computer Systems
Chapter 3 An Internet database on genetic non-syndromal hearing impairments - M. Mazzoli, L. Saggin, SD Hatzopouilos and A Martini.
Chapter 4 A decision support system for the diagnosis of syndromal genetic hearing impairment - S Crino, A D'Amico, S Grisanti and G Grisanti.
Part IV Epidemiology
Chapter 5 Epidemiology of hereditary hearing impairment in childhood - preliminary estimates from the European Union - A Parving, RJC Admiraal, F Apaydin, E Arslan, A Davis, O Dias, H Fortnum, G Grisanti, M Gross, M Hess, K Konradsson, G Lina-Granade, VE Newton, C O'Donovan, E Orzan, M Sorri, D Stephens, MD Tsakanikox, M Waagenaar and K Welzl-Müller.
Chapter 6 The German Registry for Hearing Impairment in Children: preliminary results - A Cherechevskaia, A Costa, E Rosztok, M Hess and M Gross.
Chapter 7 Recessive hearing impairment in two birth cohorts in western Sicily - G Grisanti, AM Amodeo, S Crino and E Martines.
Chapter 8 Aetiology of hearing impairment in children borth in northern Finland ijn 1975-1979 and in 1985-1989 (Abstract) - E Maki-Torkko, P Lindholm, M Vayrynen and M Sorri.
Part V Audiovestibular tests.
Chapter 9 Audiometric criteria for linkage analysis in genetic hearing impairment - FL Wuyts, PH Van de Heyning an F Declau.
Chapter 10 Audioscan notches in carriers of genetic hearing impairment - F Zhao, D Stephens, R Meredith and VE Newton.
Chapter 11 Cochlear irregulatities in obligate carriers of recessive genetic hearing impairment and in control subjects - G Lina-Granade, M Kreiss, T Gelas, L Collet and A Morgon.
Chapter 12 Three-dimensional video-oculography for the detection of genetic vestibular dysfunction at the level of the threee semicircular canals and the otoliths (Abstract) - FL Wuyts, PH Van de Heyning, H Kingma, L Bourmans and D Van Dyck.
Part VI Non-syndromal autosomal recessive hearing impairment.
Chapter 13 Homozygosity mapping applied to hereditary hearing impairment - localizing recessive deafness genes - RJH Smith, A Ramesh, CR Srikumari Srisailapathy, K Fukushima, S Wayne, A Chen, L Van Laer, J Ashley, RIZ Zbar, M Lovett and G Van Camp.
Chapter 14 A Turkish kindred with autosomal recessive non-syndromal hearing impairment segregates DFNB9 (Abstract) - SM Leal, E Vitale, F Apaydin, Y Hu, C Barnwell, M Iber, T Kandogan, U Braendle, HP Zenner, M Schwalb and O Cura.
Chapter 15 Assessment of the contribution of the loci DFNA1-10 and DFNB1-9 in inherited hearing impairment in two populations: The United Arab Emirates and the British Pakistani populations (Abstract) - KA Brown, G Karban, G Parry, LL Moynihan, AH Janjua, LI Al-Gazali, VE Newton, AF Markham and RF Mueller.
Part VII Non-syndromal autosomal dominant hearing impairment.
Chapter 16 Hereditary dominant non-syndromal progressive hearing impairment in a large family in southern Italy - A Bojano, L Califano and P Capparuccia.
Chapter 17 Autosomal dominant non-syndromal progressive sensorineural hearing impairment: audiological evalution of a Dutch DFNA2 family (Abstract) - H Kunst, HAM Marres, PLM Huygen, P Coucke, P Willems and CWRJ Cremers.
Chapter 18 Autosomal dominant congenital severe sensorineural hearing impairment - localization of a disease gene to chromosome 11q by linkage in an Austrian family (Abstract) - K Kirschhofer, JBN Kenyon, DM Hoover, P Franz, K Weopoltshammer, F Wachtler and WJ Kimberling.
Part VIII X-Linked hearing impairment
Chapter 19 Identification of a novel locus for non-syndromal X-linked sonsorineural impairment (DFN6) on Xp22 (Abstract) - I del Castillo, M Villamar, M Sarduy, L Romero, C Herraiz, F Javier Hernandez, M Rodriguez, I Borras, A Montero, J Bellon, M Cruz Tapia and F Moreno.
Part IX Mitochondrial hearing impairment
Chapter 20 Nuclear candidate genes for 'mitochondrial deafness' - HT Jacobs, ZH Shah, V Migliosi, SK Lehtinen, A Rovio and K O'Dell.
Chapter 21 A mitochondrial point mutation at position 7472 causes early onset hearing impairment and late onset neurological symptoms. Report of a Dutch and a comparison with a Sicilian family - RJH Ensink, PLM Huygen, HAM Marres, K Verhoeven, G Van Camp and GW Padberg.
Chapter 22 Genetic study of mitochondrially inherited sensorineural hearing impairment in eight large families from Spin and Cuba - M Sarduy, I del Castillo, M Villamar, L Romero, C Heraiz, F Javier Hernandex, M Cruz Tapia, C Magarino, D Menendez del Castillo, I Menendez-Alejo, R Ramirez, B Arellano, C Morales, J Bellon and F Moreno.
Chapter 23 Hearing impairment in mitochondrial point mutation - E Orzan, L Bartolomei, V Magnavita and E Arslan.
Chapter 24 Prevalence of the base pair 3243 mutation of the tRNALeu gene in the mitochondrial DNA in a population-based cohort of patients with sensorineural hearing impairment (Abstract) - S Uimonen, I Hassinen, M Sorri and K Majamaa.
Part X Syndromal conditions
Chapter 25 Otorhinolaryngological manifestations of Stickler syndrome linked to chromosome 6 near the COL11A2 gene - RJC Admiraal, HG Brunner, PLM Huygen and CWRJ Cremers.
Chapter 26 Dominant hemifacial microsomia in a four-general pedigree - A McInerney, R Winter and M Bitner-Glindzicz.
Chapter 27 Variability of expression of sensorineural hearing loss in Usher syndrome: report of a family - D Zanetti and AR Antonelli.
Chapter 28 Mpv 17 - Glomerulosclerosis gene is essential for inner ear function - AM Meyer zum Gottesberge, B Eschen, A Reuter, L Kintrup and H Weiher.
Chapter 29 Cloning of a cadidate gene for hearing defects in CATCH 22 syndrome (Abstract) - A Pizzuti, G Novelli, A Ratti, F Amati, A Mari, G Calabrese, S Nicolis, V Silani, B Marino, G Scarlato, S Ottolenghi, R Mingarelli and B Dallapiccola.
References.
Index.