| Edition |
Fifth edition. |
| Description |
1 online resource |
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text txt rdacontent |
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computer c rdamedia |
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online resource cr rdacarrier |
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text file |
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CIP data; item not viewed. |
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Preceded by Molecular and genetic basis of neurologic and psychiatric disease / editors, Roger N. Rosenberg [and others]. 4th ed. ©2008. |
| Bibliography |
Includes bibliographical references and index. |
| Contents |
Front Cover; Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease; Copyright; Dedications; Contents; Preface to the Fifth Edition; Contributors; Section I: General Concepts and Tools; Chapter 1: Mendelian, Non-Mendelian, Multigenic Inheritance, and Epigenetics; Introduction; Mendelian traits; Mendel's Laws; Chromosomes and Genes; Mendelian Inheritance; Molecular Pathomechanisms of Mutations; Factors That Modify Classic Mendelian Inheritance Patterns; New Mutations, Mosaicism, and Somatic Mutations; Penetrance and Expressivity; Repeat expansion disorders. |
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Non-mendelian inheritanceMitochondrial Inheritance; Imprinting; Uniparental Disomy; Imprinting, UPD, and Genetic Disorders; Chromosomal and genomic disorders; Aneuploidy; lsochromosomes; Translocations; Intrachromosomal Rearrangements; Mechanisms for Formation of Chromosomal Rearrangements; Nonallelic homologous recombination (NAHR); Nonhomologous end joining (NHEJ); Fork stalling and template switching/microhomology-mediated break-induced replication (FoSTeS/MMBIR); How Chromosomal Rearrangements Confer Phenotypes; Assays for Chromosomal and Genomic Disorders; Multigenic inheritance. |
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Digenic InheritanceModifier Genes; Complex traits; Genetic Features of Complex Traits; Assessing Variation in the Human Genome; Genetic Variation and Complex Traits; Examples of Susceptibility Genes for Complex Traits; Epigenetics; DNA Methylation and Hydroxymethylation; Histone Modifications and Higher Order Chromatin Remodeling; Noncoding RNA Regulation; The human genome: High-throughput technologies; Conclusions; References; Chapter 2: Genotype-Phenotype Correlations; Introduction; Single phenotype: Multiple genes; Single gene: Multiple phenotypes; Neuronal/cellular selective vulnerability. |
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Highly variable systemic phenotypesPenetrance and age of onset; Conclusion and future directions; References; Chapter 3: Immunogenetics of Neurological Disease; Introduction; Epidemiological evidence for genetic susceptibility; Genetics of MS: Family-based investigations; The role of major histocompatibility complex genes; Other immune-related genes; The environment and immune-related genes; Conclusion; References; Chapter 4: Pharmacogenomic Approaches to the Treatment of Sporadic Alzheimer Disease using Cholinomimetic Agents; Introduction; Genetic risk factors and sporadic alzheimer disease. |
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Genetic risk factors, cholinergic dysfunction, and alzheimer diseaseApoE4 and cholinomimetic drugs in alzheimer disease; Experimental drugs and their relationship to the apoE4 allele; Acetylcholinesterase and butyrylcholinesterase genetic variants in dementia; Acknowledgements; References; Chapter 5: Application of Mouse Genetics to Human Disease: Generation and Analysis of Mouse Models; Generation and Analysis of Mouse Models; Introduction; Creating mouse models; Transgenesis; Gene Targeting; Random Mutagenesis; Phenotypic analysis of mouse models; Summary; References. |
| Summary |
" ... With this new edition the three key markets, research scientists, clinicians, and genetic counselors will all continue to benefit from the content. The research community will find great value in the coverage of genomics, animal models, and diagnostic methods along with a a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations. And genetic counselors will find this a comprehensive tutorial reference on the latest advances in the science, with links to genetic testing for specific diseases. |
| Subject |
Nervous system -- Diseases -- Molecular aspects.
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Nervous system -- Diseases -- Genetic aspects.
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Molecular neurobiology.
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Neurogenetics.
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Genetic disorders.
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Nervous System Diseases -- genetics |
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Mental Disorders -- genetics |
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Genetic Diseases, Inborn |
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Système nerveux -- Maladies -- Aspect moléculaire.
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Système nerveux -- Maladies -- Aspect génétique.
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Neurobiologie moléculaire.
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Neurogénétique.
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Maladies génétiques.
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Genetic disorders
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Molecular neurobiology
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Nervous system -- Diseases -- Genetic aspects
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Nervous system -- Diseases -- Molecular aspects
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Neurogenetics
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| Added Author |
Rosenberg, Roger N., editor.
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Pascual, Juan M., editor.
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| Other Form: |
Print version 9780124105294 (DNLM)101649357 (OCoLC)902835055 |
| ISBN |
9780124105492 (PDF ebook) |
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0124105491 (PDF ebook) |
| Standard No. |
AU@ 000056029543 |
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