The Genetics of Neurodevelopmental Disorders. (Record no. 101181)
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| 000 -LEADER | |
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| fixed length control field | 07802nam a22004573i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC4036059 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240729130037.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d | |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu|||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240724s2015 xx o ||||0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781118524978 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781118524886 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC4036059 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL4036059 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaPaEBR)ebr11110808 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)904400134 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | MiAaPQ |
| Language of cataloging | eng |
| Description conventions | rda |
| -- | pn |
| Transcribing agency | MiAaPQ |
| Modifying agency | MiAaPQ |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC570 -- .G464 2015eb |
| 082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 618.92/80475 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Mitchell, Kevin J. |
| 245 14 - TITLE STATEMENT | |
| Title | The Genetics of Neurodevelopmental Disorders. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Newark : |
| Name of producer, publisher, distributor, manufacturer | John Wiley & Sons, Incorporated, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2015. |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | ©2015. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (492 pages) |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Intro -- Table of Contents -- Foreword -- Chapter 1: The Genetic Architecture of Neurodevelopmental Disorders -- 1.1 Introduction -- 1.2 Theoretical Considerations -- 1.3 Empirical Evidence -- 1.4 Complex Genotype-Phenotype Relationships -- References -- Chapter 2: Overlapping Etiology of Neurodevelopmental Disorders -- 2.1 Introduction -- 2.2 A Brief History of Neurodevelopmental Disorders -- 2.3 Evidence of Comorbidity in Individual Patients -- 2.4 Familial Co-Occurrence of NDD -- 2.5 Environmental Risk Factors in Neurodevelopmental Disorders -- 2.6 Genomics Studies of NDD -- References -- Chapter 3: The Mutational Spectrum of Neurodevelopmental Disorders -- 3.1 Introduction -- 3.2 Rare CNV Contribute to Risk of Neurodevelopmental Disorders -- 3.3 Rare Coding Variants in Single Genes that Cause Neurodevelopmental Disorders -- 3.4 The Rate of Human Mutation, Paternal-Age Affect and Evolution -- 3.5 The Rare Versus Common Variant Debate for Neurodevelopmental Disorders -- 3.6 The Emerging Portrait -- References -- Chapter 4: The Role of Genetic Interactions in Neurodevelopmental Disorders -- 4.1 Introduction -- 4.2 Why Should Epistasis be Common? -- 4.3 Detecting Epistasis in Genetic Association Studies -- 4.4 Epistasis Case Studies for Neurodevelopmental Disorders -- References -- Chapter 5: Developmental Instability, Mutation Load, and Neurodevelopmental Disorders -- 5.1 Developmental Instability Theory -- 5.2 Evidence that Mutations Matter: Indirect Markers -- 5.3 Evolutionary Perspectives on Mutations -- 5.4 Evidence That Mutations Matter -- 5.5 General Mechanisms -- References -- Chapter 6: Environmental Factors and Gene-Environment Interactions -- 6.1 Introduction -- 6.2 How to Build a Brain -- 6.3 Cautionary Note on the Interpretation of Risk Factors -- 6.4 Risk Factors Associated with Neurodevelopmental Disorders. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 6.5 Epidemiological Frameworks Can Improve Sampling for Genetic Studies -- 6.6 Combing Clues from Genetics and Epidemiology -- 6.7 Linking Genetics and the Environment - Specific Candidate Studies -- 6.8 Linking Genetics and the Environment - Genome-Wide Approaches -- 6.9 Summary and Conclusions -- References -- Chapter 7: The Genetics of Brain Malformations -- 7.1 Introduction -- 7.2 The Microcephalies -- 7.3 The Lissencephalies -- 7.4 The Polymicrogyrias -- 7.5 Brain Overgrowth and Somatic Mutations in the AKT/TOR Pathway -- 7.6 The Ciliopathies: Signaling at the Primary Cilium and Brain Development -- 7.7 Implications for Neuropsychiatric Disorders -- 7.8 Where Do We Go from Here? -- References -- Chapter 8: Disorders of Axon Guidance -- 8.1 Introduction -- 8.2 Axon Guidance Molecules -- 8.3 Axon Guidance Defects of Oculomotor Nerves -- 8.4 Contribution of Axon Guidance Genes to Neuropsychiatric Disorders -- 8.5 Conclusion/perspectives -- References -- Chapter 9: Synaptic Disorders -- 9.1 Introduction -- 9.2 Processes of Synapse Formation and Plasticity -- 9.3 Rare Syndromes -- 9.4 Enrichment for Synaptic Genes in Pathogenic Copy Number Variants -- 9.5 Whole-Exome Sequencing and Pathway Analyses in ASD, Schizophrenia, and ID -- 9.6 Functional Classes of Genes Implicated in Synaptic Disorders -- 9.7 Overview of Clinical Genetics Findings -- 9.8 Pathogenic Mechanisms -- 9.9 Cellular and Animal Models and the Development of New Therapies -- References -- Chapter 10: Human Stem Cell Models of Neurodevelopmental Disorders -- 10.1 Introduction -- 10.2 Modeling Human Brain Development and Disease in Rodents -- 10.3 Pluripotent Stem Cells -- 10.4 Directed Differentiation of Human Pluripotent Stem Cells to Replay Neural Development -- 10.5 Direct Differentiation and Transdifferentiation -- 10.6 Generation of Cerebral Cortex Neural Circuitry. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 10.7 3D Models of Brain Development -- 10.8 PSC Models of Neurodevelopmental Disorders -- 10.9 Future Directions -- References -- Chapter 11: Animal Models for Neurodevelopmental Disorders -- 11.1 Animal Models - What are They Good For? -- 11.2 Defining Validity -- 11.3 If You Had to Choose Just One… -- 11.4 Understanding Penetrance and Variable Expressivity -- 11.5 What Should We Expect to Observe? -- 11.6 A Proposed Four-Tiered Analysis of Animal Models for Neurodevelopmental Disorders -- 11.7 An Added Dimension -- 11.8 Convergent Findings? -- 11.9 Generating a Genetically Modified Animal Model - Targeting a Gene or Locus -- 11.10 Targeting Strategies -- 11.11 Paying Attention to Genotype -- 11.12 Strain Effects and Modifier Loci -- 11.13 Rodents Aren't Everything -- 11.14 Neurobiologically-Driven Therapeutics in Neurodevelopmental Disorders -- 11.15 Conclusions -- References -- Chapter 12: Cascading Genetic and Environmental Effects on Development: Implications for Intervention -- 12.1 Introduction -- 12.2 Neurodevelopmental Disorders of Known Versus Unknown Genetic Origin -- 12.3 Environmental Influences -- 12.4 Phenotypes Are Emergent -- 12.5 Implications for Intervention -- 12.6 Learning Theories Driving Behavioral Interventions -- 12.7 Concluding Thoughts -- References -- Chapter 13: Human Genetics and Clinical Aspects of Neurodevelopmental Disorders -- 13.1 Introduction -- 13.2 Clinical classifications and the genetic architecture of disease -- 13.3 De novo mutations, germline mosaicism, and other complexities -- 13.4 Rare and compensatory mutations -- 13.5 Current ability/approaches -- 13.6 Prenatal diagnosis, preimplantation genetic diagnosis/screening -- 13.7 Implications for acceptance, prognosis and treatment -- 13.8 Conclusions -- 13.9 Acknowledgements -- References. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Chapter 14: Progress Toward Therapies and Interventions for Neurodevelopmental Disorders -- 14.1 Introduction -- 14.2 Genetics -- 14.3 Molecular Pathways as Targets for Therapeutic Intervention -- 14.4 Strategies for Intervention -- 14.5 Finding the Right Model -- 14.6 Animal Models for Neurodevelopmental Disorders -- 14.7 The Promise of Induced Pluripotent Stem Cells for Personalized Medicine -- 14.8 Neurotechnologies for Neurodevelopmental Disorders -- 14.9 Biological Markers and Clinical Markers -- 14.10 Conclusions -- References -- Subject Index -- Gene Index -- End User License Agreement. |
| 588 ## - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Description based on publisher supplied metadata and other sources. |
| 590 ## - LOCAL NOTE (RLIN) | |
| Local note | Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mental retardation. |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Main entry heading | Mitchell, Kevin J. |
| Title | The Genetics of Neurodevelopmental Disorders |
| Place, publisher, and date of publication | Newark : John Wiley & Sons, Incorporated,c2015 |
| International Standard Book Number | 9781118524886 |
| 797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN) | |
| Corporate name or jurisdiction name as entry element | ProQuest (Firm) |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=4036059">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=4036059</a> |
| Public note | Click to View |
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