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Rosenberg's molecular and genetic basis of neurological and psychiatric disease / / edited by Roger N. Rosenberg, Juan M. Pascual
| Rosenberg's molecular and genetic basis of neurological and psychiatric disease / / edited by Roger N. Rosenberg, Juan M. Pascual |
| Edizione | [Fifth edition.] |
| Pubbl/distr/stampa | London, England : , : Academic Press, , 2015 |
| Descrizione fisica | 1 online resource (1465 p.) |
| Disciplina | 616.80442 |
| Soggetto topico |
Nervous system - Diseases - Molecular aspects
Nervous system - Diseases - Genetic aspects |
| Soggetto genere / forma | Electronic books. |
| ISBN | 0-12-410549-1 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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
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 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 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 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 Chapter 6: DNA Sequencing and Other Methods of Exonic and Genomic Analyses |
| Record Nr. | UNINA-9910460248803321 |
| London, England : , : Academic Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Rosenberg's molecular and genetic basis of neurological and psychiatric disease / / edited by Roger N. Rosenberg, Juan M. Pascual
| Rosenberg's molecular and genetic basis of neurological and psychiatric disease / / edited by Roger N. Rosenberg, Juan M. Pascual |
| Edizione | [Fifth edition.] |
| Pubbl/distr/stampa | London, England : , : Academic Press, , 2015 |
| Descrizione fisica | 1 online resource (1465 p.) |
| Disciplina | 616.80442 |
| Soggetto topico |
Nervous system - Diseases - Molecular aspects
Nervous system - Diseases - Genetic aspects |
| ISBN | 0-12-410549-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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
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 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 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 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 Chapter 6: DNA Sequencing and Other Methods of Exonic and Genomic Analyses |
| Record Nr. | UNINA-9910787299403321 |
| London, England : , : Academic Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Rosenberg's molecular and genetic basis of neurological and psychiatric disease / / edited by Roger N. Rosenberg, Juan M. Pascual
| Rosenberg's molecular and genetic basis of neurological and psychiatric disease / / edited by Roger N. Rosenberg, Juan M. Pascual |
| Edizione | [Fifth edition.] |
| Pubbl/distr/stampa | London, England : , : Academic Press, , 2015 |
| Descrizione fisica | 1 online resource (1465 p.) |
| Disciplina | 616.80442 |
| Soggetto topico |
Nervous system - Diseases - Molecular aspects
Nervous system - Diseases - Genetic aspects |
| ISBN | 0-12-410549-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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
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 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 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 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 Chapter 6: DNA Sequencing and Other Methods of Exonic and Genomic Analyses |
| Record Nr. | UNINA-9910817394203321 |
| London, England : , : Academic Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||