Genetics in otorhinolaryngology: 15 tables
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
2000
|
| Schriftenreihe: | Advances in oto-rhino-laryngology
56 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | X, 297 S. Ill., graph. Darst. |
| ISBN: | 3805569564 |
Internformat
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Datensatz im Suchindex
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|---|---|
| adam_text | Contents
IX Preface
1 General Review of Medical Genetics
Fukushima, Y. (Matsumoto)
Section 1
11 Genetic Heterogeneity of Usher Syndrome
Kimberling, W.J.; Orten, D.; Pieke Dahl, S. (Omaha, Nebr.)
19 Alport Syndrome
Tachibana, M. (Saitama)
32 Waardenburg Syndrome
Read, A.P. (Manchester)
39 Branchio Oto Renal Syndrome
Kalatzis, V.; Petit, C. (Paris)
45 The Jervell and Lange Nielsen Syndrome
Bitner Glindzicz, M. (London); Tranebjserg, L. (Tromse)
53 Treacher Collins Syndrome
Marsh, K.L.; Dixon, M.J. (Manchester)
60 Non Syndromic Dominant DFNA1
Lynch. E.D. (Seattle, Wash.); Leon, P.E. (San Jose)
68 DFNA2, 5,8, 12
Van Camp, G.; Coucke, P.J.; Van Hauwe, P.; Van Laer, L.; Verhoeven, K.;
Wuyts, F. (Antwerp); Smith, R.J.H. (Iowa City, Iowa)
78 DFNA3
Denoyelle, F.; Weil, D.; Levilliers, J.; Petit. C. (Paris)
84 Characterization of Autosomal Dominant Non Syndromic Hearing
Loss Loci: DFNA 4, 6, 10 and 13
McGuirt, W.T. (Iowa City, Iowa); Lesperance, M.M. (Ann Arbor, Mich.);
Wilcox, E.R. (Rockville, Md.); Chen, A.H. (Iowa City, Iowa);
Van Camp, G. (Antwerp); Smith, R.J.H. (Iowa City, Iowa)
97 DFNA7
Tranebjaerg, L.; Elverland, H.H.; Fagerheim, T. (Tromso)
101 Mutations in COCH (formerly Coch5b2) Cause DFNA9
Eavey, R.D.; Manolis, E.N.; Lubianca, J.; Merchant, S.; Seidman, J.G.;
Seidman, C. (Boston, Mass.)
103 Sensorineural Hearing Impairment, Non Syndromic, Dominant
DFNA11
Tamagawa, Y; Kitamura, K. (Tochigi); Ishida, T. (Iwate); Nishizawa, M.;
Liu, X. Z. (Richmond, Va.); Walsh, J. (Oxon); Steel, K.P. (Nottingham);
Brown, S.D.M. (Oxon)
107 DFNA15
Avraham, K.B. (Tel Aviv)
116 Mapping of the DFNB1 Locus
Mueller, R.F.; Lench, N.J. (Leeds)
124 Sensorineural Hearing Impairment: Non Syndromic, Recessive
DFNB2
Liu, X.Z. (Richmond, Va.); Brown, S.D.M. (Oxford)
131 DFNB3 Families and Shaker 1 Mice: Mutations in an Unconventional
Myosin, MYO1S
Friedman, T.B. (Rockville, Md.); Hinnant, J.T. (East Lansing, Mich.);
Fridell, R.A.; Wilcox, E.R. (Rockville, Md.); Raphael, Y;
Camper, S.A. (Ann Arbor, Mich.)
145 The PDS Gene, Pendred Syndrome and Non Syndromic Deafness
(DFNB4)
Wilcox, E.R. (Rockville, Md.); Everett, L.A. (Bethesda, Md.);
Li, X.C. (Rockville, Md./Los Angeles, Calif); Lalwani, A.K. (San Francisco, Calif);
Green, E.D. (Bethesda, Md.)
152 Sensorineural Hearing Impairment, Non Syndromic: DFNB5, 6, 7
Homozygosity Mapping to Localize Genes Causing Autosomal Recessive
Non Syndromic Hearing Loss
Fukushima, K.; Ueki, Y (Okayama); Smith R.J.H. (Iowa City, Iowa)
158 Refined Genetic Mapping of the Autosomal Recessive Non Syndromic
Deafness Locus DFNB8 on Human Chromosome 21q22.3
Scott, H.S. (Geneva); Antonarakis, S.E. (Geneva/Islamabad); Mittaz, L.;
Lalioti, M.D. (Geneva); Younus, F; Mohyuddin, A.; Mehdi, S.Q. (Islamabad);
Gal, A. (Hamburg)
Contents VI
I
164 DFNB9 and DFNB12
Yasunaga, S.; Grati, M.; Petit, C. (Paris)
168 DFNB11
Scott, D.A.; Sheffield, V.C. (Iowa City, Iowa)
171 DFNB15: Autosomal Recessive Non Syndromic Hearing Loss Gene
Chromosome 3q, 19p or Digenic Recessive Inheritance?
Chen, A.H. (Iowa City, Iowa); Fukushima, K. (Okayama);
McGuirt, W.T.; Smith, R.J.H. (Iowa City, Iowa)
176 X Linked Recessive Deafness Dystonia Syndrome
(Mohr Tranebjaerg Syndrome)
Tranebjaerg, L. (Tromso); Jensen, P.K.A. (Aarhus); van Ghelue, M. (Tromso)
181 DFN2
Bitner Glindzicz, M.; Tyson, J. (London)
184 The Ins and Outs of X Linked Deafness Type 3
Cremers, F.P.M.; Cremers, C.W.R.J. (Nijmegen);
Ropers, H. H. (Nijmegen/Berlin)
196 DFN4: Non Syndromic Autosomal Dominant X Linked Sensorineural
Hearing Impairment
Pfister, M. (Tubingen); Lalwani, A.K. (San Francisco, Calif.)
200 X Linked Non Syndromic Sensorineural Deafness: The DFN6 Locus
del Castillo, I. (Madrid); Rodriguez, M. (Palama de Mallorca);
Tapia, M.C.; Moreno, F. (Madrid)
203 Sensorineural Hearing Loss Associated with the Mitochondrial
Mutations
Usami, S. (Matsumoto); Abe, S.; Akita, J.; Shinkawa, H. (Hirosaki);
Kimberling, W.J. (Omaha, Nebr.)
212 Histopathology of the Inner Ear in DFNA9
Merchant, S.N. (Boston, Mass.); Linthicum, F.H. (Los Angeles, Calif.);
Nadol J.B., Jr. (Boston, Mass.)
218 Histopathologic Findings of the Inner Ears with Alport, Usher and
Waardenburg Syndromes
Takasaki, K.; Balaban, CD.; Sando, I. (Pittsburg, Pa.)
233 Mouse Homologues for Human Deafness
Kiernan, A.E.; Steel, K.P. (Nottingham)
Section 2
244 Neurofibromatosis 2
Kitamura, K. (Tokyo); Takahashi, K.; Kakoi, H. (Tochigi)
Contents VII
Section 3
249 Tumour Suppressor Genes and Head and Neck Cancer
Jones, A.S. (Liverpool)
261 Chromosomal Abnormalities in Squamous Cell Carcinoma of the Head
and Neck
Akervall, J.; Wennerberg, J.; Mertens, F. (Lund)
Section 4
268 Kallmann Syndrome
Hardelin, J. P; Soussi Yanicostas, N.; Ardouin, O.; Levilliers, J.; Petit, C. (Paris)
Section 5
275 Cochlear Gene Therapy
Lalwani, A.K.; Mhatre, A.N. (San Francisco, Calif.)
279 Gene Therapy Principles and Strategies for Head and Neck Cancer
O Malley, B.W., Jr.; Couch, M.E. (Baltimore, Md.)
289 Author Index
291 Subject Index
Contents VIII
|
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| indexdate | 2024-07-09T18:40:11Z |
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| isbn | 3805569564 |
| language | English |
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| series | Advances in oto-rhino-laryngology |
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| spelling | Genetics in otorhinolaryngology 15 tables vol. eds. Ken Kitamura ... Basel [u.a.] Karger 2000 X, 297 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Advances in oto-rhino-laryngology 56 Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Hals-Nasen-Ohren-Krankheit (DE-588)4023089-2 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Hals-Nasen-Ohren-Krankheit (DE-588)4023089-2 s Erbkrankheit (DE-588)4015106-2 s DE-604 Molekulargenetik (DE-588)4039987-4 s Kitamura, Ken Sonstige oth Advances in oto-rhino-laryngology 56 (DE-604)BV002535009 56 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008971744&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Genetics in otorhinolaryngology 15 tables Advances in oto-rhino-laryngology Molekulargenetik (DE-588)4039987-4 gnd Hals-Nasen-Ohren-Krankheit (DE-588)4023089-2 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4039987-4 (DE-588)4023089-2 (DE-588)4015106-2 (DE-588)4143413-4 |
| title | Genetics in otorhinolaryngology 15 tables |
| title_auth | Genetics in otorhinolaryngology 15 tables |
| title_exact_search | Genetics in otorhinolaryngology 15 tables |
| title_full | Genetics in otorhinolaryngology 15 tables vol. eds. Ken Kitamura ... |
| title_fullStr | Genetics in otorhinolaryngology 15 tables vol. eds. Ken Kitamura ... |
| title_full_unstemmed | Genetics in otorhinolaryngology 15 tables vol. eds. Ken Kitamura ... |
| title_short | Genetics in otorhinolaryngology |
| title_sort | genetics in otorhinolaryngology 15 tables |
| title_sub | 15 tables |
| topic | Molekulargenetik (DE-588)4039987-4 gnd Hals-Nasen-Ohren-Krankheit (DE-588)4023089-2 gnd Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Molekulargenetik Hals-Nasen-Ohren-Krankheit Erbkrankheit Aufsatzsammlung |
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