Dafydd Stephens, Andrew P Read, Alessandro Martini

Developments in Genetic Hearing Impairment

• Broschiertes Buch

Produktbeschreibung

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.

---

Hinweis: Dieser Artikel kann nur an eine deutsche Lieferadresse ausgeliefert werden.

Produktdetails

• Verlag: Wiley
• Volume 1 edition
• Seitenzahl: 200
• Erscheinungstermin: 16. Januar 2007
• Englisch
• Abmessung: 234mm x 156mm x 11mm
• Gewicht: 313g
• ISBN-13: 9781861560582
• ISBN-10: 1861560583
• Artikelnr.: 23019851

Autorenporträt

Dafydd Stephens 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.

Inhaltsangabe

Preface. 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.