{"product_id":"developments-in-genetic-hearing-impairment-isbn-9781861560582","title":"Developments in Genetic Hearing Impairment","description":"This book comprises the first volume of a series which reports the outcomes of the European Union Concerted Action Programme on Genetic Hearing Impairment. The aim is to bring together clinical geneticists and audiologists, as well as basic scientists and other clinicians with a general interest in this field, to standardise the audiological and terminological approaches and publish state of the art interdisciplinary studies.  \u003cb\u003ePreface\u003c\/b\u003e.  \u003cp\u003eContributors.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart I Gene therapy.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 1\u003c\/b\u003e Gene therapy for hearing disorders - AK Lalwani, GJ Carvalho, JJ Han and AN Mhatre.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart II Radiology.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 2\u003c\/b\u003e Radiology of inner ear defects - PD Phelps.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart III Computer Systems\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 3\u003c\/b\u003e An Internet database on genetic non-syndromal hearing impairments - M. Mazzoli, L. Saggin, SD Hatzopouilos and A Martini.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 4\u003c\/b\u003e A decision support system for the diagnosis of syndromal genetic hearing impairment - S Crino, A D'Amico, S Grisanti and G Grisanti.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart IV Epidemiology\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 5\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 6\u003c\/b\u003e The German Registry for Hearing Impairment in Children: preliminary results - A Cherechevskaia, A Costa, E Rosztok, M Hess and M Gross.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 7\u003c\/b\u003e Recessive hearing impairment in two birth cohorts in western Sicily - G Grisanti, AM Amodeo, S Crino and E Martines.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 8\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart V Audiovestibular tests.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 9\u003c\/b\u003e Audiometric criteria for linkage analysis in genetic hearing impairment - FL Wuyts, PH Van de Heyning an F Declau.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 10\u003c\/b\u003e Audioscan notches in carriers of genetic hearing impairment - F Zhao, D Stephens, R Meredith and VE Newton.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 11\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 12\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart VI Non-syndromal autosomal recessive hearing impairment.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 13\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 14\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 15\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart VII Non-syndromal autosomal dominant hearing impairment.\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 16\u003c\/b\u003e Hereditary dominant non-syndromal progressive hearing impairment in a large family in southern Italy - A Bojano, L Califano and P Capparuccia.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 17\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 18\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart VIII X-Linked hearing impairment\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 19\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart IX Mitochondrial hearing impairment\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 20\u003c\/b\u003e Nuclear candidate genes for 'mitochondrial deafness' - HT Jacobs, ZH Shah, V Migliosi, SK Lehtinen, A Rovio and K O'Dell.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 21\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 22\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 23\u003c\/b\u003e Hearing impairment in mitochondrial point mutation - E Orzan, L Bartolomei, V Magnavita and E Arslan.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 24\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart X Syndromal conditions\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 25\u003c\/b\u003e Otorhinolaryngological manifestations of Stickler syndrome linked to chromosome 6 near the COL11A2 gene - RJC Admiraal, HG Brunner, PLM Huygen and CWRJ Cremers.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 26\u003c\/b\u003e Dominant hemifacial microsomia in a four-general pedigree - A McInerney, R Winter and M Bitner-Glindzicz.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 27\u003c\/b\u003e Variability of expression of sensorineural hearing loss in Usher syndrome: report of a family - D Zanetti and AR Antonelli.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 28\u003c\/b\u003e Mpv 17 - Glomerulosclerosis gene is essential for inner ear function - AM Meyer zum Gottesberge, B Eschen, A Reuter, L Kintrup and H Weiher.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 29\u003c\/b\u003e 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.\u003c\/p\u003e \u003cp\u003eReferences.\u003c\/p\u003e \u003cp\u003eIndex.\u003c\/p\u003e  \u003cp\u003e\u003cstrong\u003eDafydd Stephens\u003c\/strong\u003e FRCP, is Honorary Professor of Audiological Medicine at Cardiff University, Wales, UK. Sophia E. Kramer, PhD, is Senior Researcher and Psychologist at the Department of E.N.T. \/ Audiology \/ EMGO Institute for Health and Care Research at the VU University Medical Centre in Amsterdam, the Netherlands.  This book comprises the first volume of a series which reports the outcomes of the European Union Concerted Action Programme on Genetic Hearing Impairment. The aim is to bring together clinical geneticists and audiologists, as well as basic scientists and other clinicians with a general interest in this field, to standardise the audiological and terminological approaches and publish state of the art interdisciplinary studies.\u003c\/p\u003e","brand":"Wiley","offers":[{"title":"Default Title","offer_id":47989055619301,"sku":"NP9781861560582","price":123.95,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1842\/7735\/files\/9781861560582.jpg?v=1761782609","url":"https:\/\/k12savings.com\/es\/products\/developments-in-genetic-hearing-impairment-isbn-9781861560582","provider":"K12savings","version":"1.0","type":"link"}