Genetic hearing impairment: its clinical presentations ; 23 tables
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
2002
|
| Schriftenreihe: | Advances in oto-rhino-laryngology
61 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XIV, 248 S. Ill., graph. Darst. |
| ISBN: | 3805574495 |
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Datensatz im Suchindex
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| adam_text | Contents
IX Foreword
Stephens, D. (Cardiff)
XI Foreword
Battey, J. (Bethesda, Md.)
XIII Preface
Cremers, C.W.R.J. (Nijmegen); Smith, R.J.H. (Iowa City, Iowa)
Introduction
1 Understanding Inner Ear Physiology at the Molecular Level
Hone, S.W.; Smith, R.J.H. (Iowa City, Iowa)
11 Molecular Diagnosis of Hereditary Hearing Impairment
Kremer, H.; Hoefsloot, L.H. (Nijmegen)
28 Developments in Cochlear Gene Therapy
Lalwani, A.K. (San Francisco, Calif.); Jero, J. (San Francisco, Calif./Helsinki);
Mhatre, A.N. (San Francisco, Calif.)
DFNA
34 Auditory Phenotype of DFNA1
Leon, RE. (San Jose, Costa Rica); Lalwani, A.K. (San Francisco, Calif.)
41 DFNA2/KCNQ4 and Its Manifestations
De Leenheer, E.M.R.; Ensink, R.J.H.; Kunst, H.P.M.; Marres, H.A.M. (Nijmegen);
Talebizadeh, Z. (Kansas City, Mo.); Declau, F. (Antwerp);
Smith, S.D. (Omaha, Nebr.); Usami, S. i. (Matsumoto); Van de Heyning, P.H.;
Van Camp, G. (Antwerp); Huygen, P.L.M.; Cremers, C.W.R.J. (Nijmegen)
47 DFNA3
Denoyelle, F; Lina Granade, G.; Petit, C. (Paris)
53 Clinical Features of DFNAS
De Leenheer, E.M.R. (Nijmegen); van Zuijlen, D.A. (Utrecht); Van Laer, L.;
Van Camp, G. (Antwerp); Huygen, P.L.M. (Nijmegen); Huizing, E.H. (Utrecht);
Cremers, C.W.R.J. (Nijmegen)
60 Clinical Presentation of DFNA8 DFNA12
Govaerts, P.J.; De Ceulaer, G.; Daemers, K.; Verhoeven, K..;
Van Camp, G.; Schatteman, I.; Verstreken, M. (Antwerp); Willems, P.J. (Rotterdam);
Somers, T.; Offeciers, F.E. (Antwerp)
66 DFNA9/COCH and Its Phenotype
Kemperman, M.H.; Bom, S.J.H. (Nijmegen); Lemaire, EX. (Leuven);
Verhagen, W.I.M.; Huygen, P.L.M.; Cremers, C.W.R.J. (Nijmegen)
73 DFNA10/EYA4 The Clinical Picture
De Leenheer, E.M.R.; Huygen, P.L.M. (Nijmegen); Wayne, S. (Iowa City, Iowa);
Verstreken, M.; Declau, E; Van Camp, G.; Van de Heyning, PH. (Antwerp);
Smith, R.J.H. (Iowa City, Iowa); Cremers, C.W.R.J. (Nijmegen)
79 Clinical Presentation of DFNA11 (MYO7A)
Tamagawa, Y; Ishikawa, Ka.; Ishikawa, Ko.; Ishida, T.; Kitamura, K.; Makino, S.;
Tsuru, T.; Ichimura, K. (Tokyo)
85 The Phenotype of DFNA13/COL77A2
De Leenheer, E.M.R. (Nijmegen); McGuirt, W.T. (Iowa City, Iowa);
Kunst, H.P.M.; Huygen, P.L.M. (Nijmegen); Smith, R.J.H. (Iowa City, Iowa);
Cremers, C.W.R.J. (Nijmegen)
92 The Clinical Presentation of DFNA15/POU4F3
Gottfried, I. (Tel Aviv); Huygen, P.L.M. (Nijmegen); Avraham, K.B. (Tel Aviv)
98 Clinical Presentation of the DFNA Loci Where Causative Genes
Have Not Yet Been Cloned: DFNA4, DFNA6/14, DFNA7, DFNA16,
DFNA20 and DFNA21
Huygen, P.L.M.; Bom, S.J.H. (Nijmegen); Van Camp, G. (Antwerp);
Cremers, C.W.R.J. (Nijmegen)
107 Auditory Phenotype of DFNA17
Lalwani, A.K.; Goldstein, J.A.; Mhatre, A.N. (San Francisco, Calif.)
DFNB
113 Clinical Presentation of DFNB1
McGuirt, W.T.; Prasad, S.D.; Cucci, R.A.; Green, G.E.; Smith, R.J.H. (Iowa City, Iowa)
120 The Clinical Presentation of DFNB2
Liu, X.Z. (Miami, Fla.)
124 DFNB3, Spectrum of MYO15A Recessive Mutant Alleles and an
Emerging Genotype Phenotype Correlation
Friedman, T.B. (Rockville, Md.); Hinnant, J.T. (East Lansing, Mich.);
Ghosh, M. (New Delhi); Boger, E.T. (Rockville, Md.); Riazuddin, S. (Lahore);
Lupski, J.R.; Potocki, L. (Houston, Tex.); Wilcox, E.R. (Rockville, Md.)
Contents VI
131 Pendred Syndrome Redefined: Report of a New Family with Fluctuating and
Progressive Hearing Loss
Stinckens, C. (Leuven); Huygen, P.L.M. (Nijmegen); Van Camp, G. (Antwerp);
Cremers, C.W.R.J. (Nijmegen)
142 DFNB9
Denoyelle, F.; Petit, C. (Paris)
145 Clinical Presentation of DFNB12 and Usher Syndrome Type ID
Bork, J.M.; Morell, R.J. (Rockville, Md.); Khan, S.; Riazuddin, S. (Lahore);
Wilcox, E.R.; Friedman, T.B.; Griffith, A.J. (Rockville, Md.)
153 DFNB21
Denoyelle, F; Mustapha, M; Petit, C. (Paris)
156 Clinical Manifestations of DFNB29 Deafness
Ahmed, Z.M. (Rockville, Md./Lahore); Riazuddin, Sa.;
Friedman, T.B. (Rockville, Md.); Riazuddin, Sh. (Lahore); Wilcox, E.R.;
Griffith, A.J. (Rockville, Md.)
DFN
161 X Linked Mixed Deafness Syndrome with Congenital Fixation of the
Stapedial Footplate and Perilymphatic Gusher (DFN3)
Cremers, C.W.R.J.; Snik, A.F.M.; Huygen, P.L.M.; Joosten, F.B.M.;
Cremers, F.P.M. (Nijmegen)
168 Clinical Phenotype of DFN2, DFN4 and DFN6
Pfister, M.H.F. (Tubingen); Lalwani, A.K. (San Francisco, Calif.)
Mitochondrial Deafness
172 The Clinical Spectrum of Maternally Transmitted Hearing Loss
Ensink, R.J.H.; Huygen, P.L.M.; Cremers, C.W.R.J. (Nijmegen)
Audiometric Patterns in Types of Common Syndromic Deafness
184 Hearing Impairment in Usher s Syndrome
Pennings, R.J.E.; Wagenaar, M.; van Aarem, A.; Huygen, P.L.M. (Nijmegen);
Kimberling, W.J. (Omaha, Nebr.); Cremers, C.W.R.J. (Nijmegen)
192 The Branchio Oto Renal Syndrome
Kemperman, M.H. (Nijmegen); Stinckens, C. (Leuven); Kumar, S. (Omaha, Nebr.);
Joosten, F.B.M.; Huygen, P.L.M.; Cremers, C.W.R.J. (Nijmegen)
201 Clinical Features of the Waardenburg Syndromes
Newton, VE. (Manchester)
209 Hearing Loss in the Treacher Collins Syndrome
Marres, H.A.M. (Nijmegen)
Contents VII
216 Hearing Impairment in Stickler Syndrome
Admiraal, R.J.C. (Nijmegen); Szymko, Y.M.; Griffith, A.J. (Rockville, Md.);
Brunner, H.G.; Huygen, P.L.M. (Nijmegen)
Implications for the Future
224 Genetic Modifiers of Hereditary Hearing Loss
Riazuddin, Sa. (Rockville, Md.); Ahmed, Z.M. (Rockville, Md./Lahore);
Friedman, T.B.; Griffith, A.J. (Rockville, Md.); Riazuddin, Sh. (Lahore);
Wilcox, E.R. (Rockville, Md.)
230 Genetic Evaluation and Counseling for Congenital Deafness
Green, G.E.; Cunniff, C. (Tucson, Ariz.)
241 Author Index
243 Subject Index
Contents VIII
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| spelling | Genetic hearing impairment its clinical presentations ; 23 tables vol. ed. Cor W. R. J. Cremers ; Richard J. H. Smith Basel [u.a.] Karger 2002 XIV, 248 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Advances in oto-rhino-laryngology 61 Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Hörstörung (DE-588)4025437-9 gnd rswk-swf Hörschädigung (DE-588)4134997-0 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Audiometrie (DE-588)4003475-6 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Hörschädigung (DE-588)4134997-0 s Genetik (DE-588)4071711-2 s DE-604 Hörstörung (DE-588)4025437-9 s Erbkrankheit (DE-588)4015106-2 s Audiometrie (DE-588)4003475-6 s Cremers, Cornelius W. R. J. 1945- Sonstige (DE-588)124264867 oth Advances in oto-rhino-laryngology 61 (DE-604)BV002535009 61 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009843128&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Genetic hearing impairment its clinical presentations ; 23 tables Advances in oto-rhino-laryngology Erbkrankheit (DE-588)4015106-2 gnd Hörstörung (DE-588)4025437-9 gnd Hörschädigung (DE-588)4134997-0 gnd Genetik (DE-588)4071711-2 gnd Audiometrie (DE-588)4003475-6 gnd |
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| title | Genetic hearing impairment its clinical presentations ; 23 tables |
| title_auth | Genetic hearing impairment its clinical presentations ; 23 tables |
| title_exact_search | Genetic hearing impairment its clinical presentations ; 23 tables |
| title_full | Genetic hearing impairment its clinical presentations ; 23 tables vol. ed. Cor W. R. J. Cremers ; Richard J. H. Smith |
| title_fullStr | Genetic hearing impairment its clinical presentations ; 23 tables vol. ed. Cor W. R. J. Cremers ; Richard J. H. Smith |
| title_full_unstemmed | Genetic hearing impairment its clinical presentations ; 23 tables vol. ed. Cor W. R. J. Cremers ; Richard J. H. Smith |
| title_short | Genetic hearing impairment |
| title_sort | genetic hearing impairment its clinical presentations 23 tables |
| title_sub | its clinical presentations ; 23 tables |
| topic | Erbkrankheit (DE-588)4015106-2 gnd Hörstörung (DE-588)4025437-9 gnd Hörschädigung (DE-588)4134997-0 gnd Genetik (DE-588)4071711-2 gnd Audiometrie (DE-588)4003475-6 gnd |
| topic_facet | Erbkrankheit Hörstörung Hörschädigung Genetik Audiometrie Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009843128&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV002535009 |
| work_keys_str_mv | AT cremerscorneliuswrj genetichearingimpairmentitsclinicalpresentations23tables |