The handbook of genetic communicative disorders:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
San Diego [u.a.]
Acad. Press
2001
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XX, 270 S. Ill., graph. Darst. |
| ISBN: | 0122806050 |
Internformat
MARC
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| 245 | 1 | 0 | |a The handbook of genetic communicative disorders |c ed. by Sanford E. Gerber |
| 264 | 1 | |a San Diego [u.a.] |b Acad. Press |c 2001 | |
| 300 | |a XX, 270 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 4 | |a Communication, Troubles de la - Guides, manuels, etc | |
| 650 | 7 | |a Erbkrankheit |2 swd | |
| 650 | 7 | |a Erfelijke ziekten |2 gtt | |
| 650 | 7 | |a Fonoaudiologia |2 larpcal | |
| 650 | 7 | |a Kommunikationsstörung |2 swd | |
| 650 | 4 | |a Maladies héréditaires - Guides, manuels, etc | |
| 650 | 7 | |a Spraakstoornissen |2 gtt | |
| 650 | 7 | |a Sprachstörung |2 swd | |
| 650 | 7 | |a Taalstoornissen |2 gtt | |
| 650 | 7 | |a Transtornos da comunicação (genética) |2 larpcal | |
| 650 | 4 | |a Communication Disorders |x genetics | |
| 650 | 4 | |a Congenital Abnormalities | |
| 650 | 4 | |a Genetic Diseases, Inborn | |
| 650 | 4 | |a Genetic disorders |v Handbooks, manuals, etc | |
| 700 | 1 | |a Gerber, Sanford E. |e Sonstige |4 oth | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009848018&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-009848018 | ||
Datensatz im Suchindex
| _version_ | 1804129255674609664 |
|---|---|
| adam_text | CONTENTS
Foreword xiii
Louis Rossetti
Contributors xv
Preface xvii
1
Introduction
San ford E. Geriier
I. Some Background 1
II. What Is the Problem? 3
III. Some Language 5
IV. Some Information 8
2
Delineation of Genetic Components
of Communicative Disorders
Glenn E. Green and Richard J. H. Smith
I. Historical Aspects 12
A. Common Environmental Exposures 13
B. Common in utero Exposures 13
C. Common Cultural Experiences 13
D. Stochastic Variation 14
II. Genetic Inheritance Patterns 14
A. Mendelian Inheritance 15
B. Non Mendelian Inheritance 15
C. Penetrance and Expressivity 17
D. Chromosomal Inheritance 17
E. Multifactorial Inheritance 18
III. Identification of Genetic Components 19
A. Twin Study 19
B. Family Study 20
C. Segregation Analysis 20
IV. Identification of Loci and Genes 21
A. Protein Approaches 21
B. Candidate Gene Approaches 21
C. Positional Approaches 22
D. Association Studies 24
E. Animal Models 25
E Verification of Findings 25
V. Medical Significance 26
A. Diagnostics 26
B. Genetic Counseling 26
C. Prognostics 26
D. Therapeutics 27
3
Prenatal and Postnatal
Craniofacial Development
Sylvan E. Stool
I. Phylogenetic Aspects and Embryology 31
A. Plan of the Human Face 33
B. Formation of the Craniofacial Complex 36
C. Divisions of the Human Face 38
D. Development of Craniofacial Arteries, Muscles, and Nerves 41
E. Molecular Control of Craniofacial Development 45
F. Conclusion 46
II. Postnatal Craniofacial Growth and Development 47
A. Growth Concepts 49
B. Cranium 55
C. Mandible 59
III. Functions of the Human Craniofacial Complex 63
A. Eye 63
B. Ear 63
C. Nose 63
D. Mouth 63
4
Morphogenesis and Genetics of Inner Ear
Development and Malformation
Dorothy A. Frenz, Juan Represa, and Thomas R. Van De Water
I. Introduction 70
II. Morphogenesis of the Inner Ear 80
A. Membranous Labyrinth 70
B. Bony Labyrinth (Otic Capsule) 76
III. Genetic Patterning of Inner Ear Development 77
A. Regional Specification: Patterning of Cochlea
Versus Vestibule 77
B. Patterning of Tissue and Cell Fate Specification HO
5
Genetic Deafness
Robert J. Ruben
I. Introduction 89
History of the Genetics of Hearing Impairment 90
II. Nosology 91
A. Anatomical 91
B. Phenotype 92
C. Mode of Inheritance 92
D. Molecular Aberrations: Changes in Nuclear DNA
and Mitochondrial DNA (mtDNA) 93
III. Syndromic Hearing Impairment 93
A. Alport Syndrome 94
B. Branchio Oto Renal (BOR) Syndrome 94
C. Jervell and Lange Nielsen Syndrome 95
D. Mitochondrial Syndromes 95
E. Norrie Disease 95
F Pendred Syndrome 95
G. Stickler Syndrome 96
H. Treacher Collins Franceschetti Syndrome 96
I. Usher Syndrome 97
J. Waardenburg Syndrome 97
K. Nonsyndromic Hearing Impairment 99
L. Clinical Application 103
M. Management 107
6
Genetic Language Disorders
Julie Williams and Jim Stevenson
I. Specific Language Impairment 114
A. Epidemiology 114
B. Family Studies 115
C. Twin Studies 116
D. Mode of Transmission 117
E. Molecular Genetic Studies 117
II. The Genetics of Specific Reading Disability 118
A. Family Studies 119
B. Twin Studies 119
C. Mode of Transmission 121
D. Molecular Genetics 121
III. Conclusions 123
7
Genetics in Craniofacial Disorders and
Clefting: Then and Now
Robert J. Shprintzen
I. The Genetics of Clefting: Its Evolution over the Past 30 Years 130
II. How Might Mutant Genes Cause Cleft Lip, Cleft Palate,
and Craniofacial Anomalies? 133
III. Syndromes of Clefting 134
IV. Sequences and Associations 138
V. When to Be Suspicious 139
VI. The Predictive Power of Understanding Causation 141
VII. Integration of Genetics into the Interdisciplinary Team 142
VIII. Syndromes Commonly Seen in Cleft Palate Centers 143
IX. Does It Really Make a Difference? 145
X. Has There Been an Effect on Research? 148
XI. Conclusion 148
8
Stuttering and Genetics: Our Past and Our Future
Susan Felsenfeld and Dennis Drayna
I. Introduction 152
II. Stuttering and Genetics: An Abridged Historical Timeline 152
A. 1930 to 1950 152
B. 1950 to 1970 155
C. 1970 to 1990 157
D. 1990 and Beyond 160
III. Gene Finding: The Today and Tomorrow of
Stuttering Research 162
A. Genetic Linkage Studies 163
B. Gene Finding and Candidate Evaluation 164
C. Gene Identification 165
D. Gene Evaluation 165
E. Complex Diseases 166
E Candidate Gene Evaluation in Complex Diseases 167
G. The NIH Stuttering Study 167
IV. The Human Face of the Molecular Genetics Revolution 168
Genetic Literacy and Lay Beliefs about Inheritance 169
V. Concluding Remarks 171
9
Concepts in Behavioral Genetics
and Their Application to Developmental
and Learning Disorders
Jeffrey W. Gilger
I. Introduction to the Basic Model of Human Behavioral Genetics 178
A. Additive Main Effects of Genes and Environments on
Disorders of Reading, Attention or Activity, and Autism 179
B. Nonadditive Complexities in the Development of Disorders
of Reading, Attention, or Activity, and Autism 182
C. Environment Versus Genetics for Disorders of Reading,
Attention, or Activity, and Autism 185
D. The Basis of the Association Among Various Disorders,
Including Those of Reading, Attention, or Activity,
and Autism 188
E. Disorders of Reading, Attention, or Activity, and Autism
Versus Normal Variation in Related Skills 189
II. Molecular Work and Human Behavioral Genetics 190
III. Toward the Future 192
1O
Genetic Privacy and Ethical,
Legal, and Social Issues
Sharon Davis
I. Genetic Testing 200
II. Genetic Discrimination 201
A. Examples of Discrimination 202
B. Protection from Discrimination 203
III. Genetic Privacy 204
A. Sources of Genetic Information and Concerns about Privacy 205
B. Enhancing Genetic Privacy 206
C. Importance of Informed Consent in Testing and
Research Participation 207
D. Risk of Physical Injury in Gene Therapy Studies 208
IV. Conclusion 209
I 1
Treatment and Prevention
Sanford E. Gerber
I. Introduction 213
II. Treatment 214
Gene Therapy 215
III. Prevention 218
A. Primary Prevention 218
B. Secondary Prevention 219
C. Tertiary Prevention 220
Bibliography 223
Author Index 247
Subj ect Index 26 1
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| indexdate | 2024-07-09T19:02:14Z |
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| language | English |
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| spelling | The handbook of genetic communicative disorders ed. by Sanford E. Gerber San Diego [u.a.] Acad. Press 2001 XX, 270 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Communication, Troubles de la - Guides, manuels, etc Erbkrankheit swd Erfelijke ziekten gtt Fonoaudiologia larpcal Kommunikationsstörung swd Maladies héréditaires - Guides, manuels, etc Spraakstoornissen gtt Sprachstörung swd Taalstoornissen gtt Transtornos da comunicação (genética) larpcal Communication Disorders genetics Congenital Abnormalities Genetic Diseases, Inborn Genetic disorders Handbooks, manuals, etc Gerber, Sanford E. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009848018&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | The handbook of genetic communicative disorders Communication, Troubles de la - Guides, manuels, etc Erbkrankheit swd Erfelijke ziekten gtt Fonoaudiologia larpcal Kommunikationsstörung swd Maladies héréditaires - Guides, manuels, etc Spraakstoornissen gtt Sprachstörung swd Taalstoornissen gtt Transtornos da comunicação (genética) larpcal Communication Disorders genetics Congenital Abnormalities Genetic Diseases, Inborn Genetic disorders Handbooks, manuals, etc |
| title | The handbook of genetic communicative disorders |
| title_auth | The handbook of genetic communicative disorders |
| title_exact_search | The handbook of genetic communicative disorders |
| title_full | The handbook of genetic communicative disorders ed. by Sanford E. Gerber |
| title_fullStr | The handbook of genetic communicative disorders ed. by Sanford E. Gerber |
| title_full_unstemmed | The handbook of genetic communicative disorders ed. by Sanford E. Gerber |
| title_short | The handbook of genetic communicative disorders |
| title_sort | the handbook of genetic communicative disorders |
| topic | Communication, Troubles de la - Guides, manuels, etc Erbkrankheit swd Erfelijke ziekten gtt Fonoaudiologia larpcal Kommunikationsstörung swd Maladies héréditaires - Guides, manuels, etc Spraakstoornissen gtt Sprachstörung swd Taalstoornissen gtt Transtornos da comunicação (genética) larpcal Communication Disorders genetics Congenital Abnormalities Genetic Diseases, Inborn Genetic disorders Handbooks, manuals, etc |
| topic_facet | Communication, Troubles de la - Guides, manuels, etc Erbkrankheit Erfelijke ziekten Fonoaudiologia Kommunikationsstörung Maladies héréditaires - Guides, manuels, etc Spraakstoornissen Sprachstörung Taalstoornissen Transtornos da comunicação (genética) Communication Disorders genetics Congenital Abnormalities Genetic Diseases, Inborn Genetic disorders Handbooks, manuals, etc |
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