LEADER 05630nam 2200661 450 001 9910460248803321 005 20200520144314.0 010 $a0-12-410549-1 035 $a(CKB)3710000000269923 035 $a(EBL)1826802 035 $a(SSID)ssj0001414805 035 $a(PQKBManifestationID)12004927 035 $a(PQKBTitleCode)TC0001414805 035 $a(PQKBWorkID)11434308 035 $a(PQKB)10200317 035 $a(MiAaPQ)EBC1826802 035 $a(PPN)199230897 035 $a(Au-PeEL)EBL1826802 035 $a(CaPaEBR)ebr10966282 035 $a(CaONFJC)MIL785184 035 $a(OCoLC)894171500 035 $a(EXLCZ)993710000000269923 100 $a20141113h20152015 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aRosenberg's molecular and genetic basis of neurological and psychiatric disease /$fedited by Roger N. Rosenberg, Juan M. Pascual 205 $aFifth edition. 210 1$aLondon, England :$cAcademic Press,$d2015. 210 4$dİ2015 215 $a1 online resource (1465 p.) 300 $aDescription based upon print version of record. 311 $a0-12-410529-7 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aFront 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 327 $aNon-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 327 $aDigenic 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 327 $aHighly 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 327 $aGenetic 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 327 $aChapter 6: DNA Sequencing and Other Methods of Exonic and Genomic Analyses 330 $a Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neur 606 $aNervous system$xDiseases$xMolecular aspects 606 $aNervous system$xDiseases$xGenetic aspects 608 $aElectronic books. 615 0$aNervous system$xDiseases$xMolecular aspects. 615 0$aNervous system$xDiseases$xGenetic aspects. 676 $a616.80442 702 $aRosenberg$b Roger N. 702 $aPascual$b Juan M. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910460248803321 996 $aRosenberg's molecular and genetic basis of neurological and psychiatric disease$92242898 997 $aUNINA