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1. Medical genetics [2016]

Book
x, 356 pages : illustrations (chiefly color) ; 28 cm
  • 1 Background and History 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes 3 Genetic Variation: Its Origin and Detection 4 Autosomal Dominant and Recessive Inheritance 5 Sex-Linked and Nontraditional Modes of Inheritance 6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease 7 Biochemical Genetics: Disorders of Metabolism 8 Disease-Gene Identification 9 Immunogenetics 10 Genetic Basis of Development 11 Cancer Genetics 12 Multifactorial Inheritance and Common Diseases 13 Genetic Testing and Gene Therapy 14 Genetics and Precision Medicine 15 Clinical Genetics and Genetic Counseling Glossary Answers to Study Questions.
  • (source: Nielsen Book Data)9780323188357 20161031
Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention.
(source: Nielsen Book Data)9780323188357 20161031
Science Library (Li and Ma)
BIO-118-01
Book
xxvi, 552 pages : ill. ; 27 cm
  • UNIT I GENES, CHROMOSOMES, AND GENOMES -- 1. The Logic of Genetic Analysis -- 2. Model Organisms and Their Genomes -- 3. Genomes, Chromosomes, and Epigenetics -- UNIT II GENES AND MUTATIONS -- 4. Identifying and Classifying Mutants -- 5. Connecting a Phenotype to a DNA Sequence -- 6. Finding Mutant Phenotypes for Cloned Genes -- 7. Genome-wide Mutant Screens -- UNIT III GENES AND NATURAL VARIATION -- 8. Genome-wide Associations -- 9. Genetic Analysis of Complex Traits -- 10. Genetic Analysis Using Natural Variation -- UNIT IV GENE INTERACTIONS -- 11. Using One Gene to Identify Functionally Related Genes -- 12. Epistasis and Genetic Pathways -- 13. Pathways, Networks, and Systems -- 14. Genes, Systems, and Phenotypes.
  • (source: Nielsen Book Data)9780199651818 20160616
How do we know what role a particular gene has? How do some genes control the expression of others? How do genes interact to form gene networks? With its unique integration of genetics and molecular biology, Genetic Analysis probes fascinating questions such as these, detailing how our understanding of key genetic phenomena can be used to understand biological systems. Opening with a brief overview of key genetic principles, model organisms, and epigenetics, the book goes on to explore the use of gene mutations and the analysis of gene expression and activity. A discussion of the genetic structure of natural populations follows, before the interaction of genes during suppression and epistasis, how we study gene networks, and personalized genomics are considered. Drawing on the latest experimental tools, including microarrays, RNAi screens, and bioinformatics approaches, Genetic Analysis provides a state-of-the-art review of the field, but in a truly student-friendly manner. It uses extended case studies and text boxes to augment the narrative, taking the reader right to the forefront of contemporary research, without losing clarity of explanation and insight. We are in an age where, despite knowing so much about biological systems, we are just beginning to realise how much more there is still to understand. Genetic Analysis is the ideal guide to how we can use the awesome power of molecular genetics to further our understanding. Online Resource Centre The Online Resource Centre to accompany Genetic Analysis features the following resources for teachers and students: For students: * Topical updates - key updates on topics or tools presented in the book, to keep you up-to-date with the latest developments in the field. * Additional case studies and text boxes to complement and add to those found in the book. * Practice problems, to test the reader's knowledge of the concepts presented, and help to master them. For registered adopters of the book: * Figures from the book in electronic format, ready to download. * Journal clubs - suggested papers and discussion questions linked to topics covered in the book.
(source: Nielsen Book Data)9780199651818 20160616
Science Library (Li and Ma)
BIO-118-01
Book
xxv, 781 p. : ill. (some col.) ; 28 cm.
  • Nucleic acid structure and gene expression
  • Chromosome structure and function
  • Genes in pedigrees and populations
  • Cells and cell-cell communication
  • Principles of development
  • Amplifying DNA : cell-based DNA cloning and PCR
  • Nucleic acid hybridization : principles and applications
  • Analyzing the structure and expression of genes and genomes
  • Organization of the human genome
  • Model organisms, comparative genomics, and evolution
  • Human gene expression
  • Studying gene function in the post-genome era
  • Human genetic variability and its consequences
  • Genetic mapping of mendelian characters
  • Mapping genes conferring susceptibility to complex diseases
  • Identifying human disease genes and susceptibility factors
  • Cancer genetics
  • Genetic testing of individuals
  • Pharmacogenetics, personalized medicine and population screening
  • New approaches to therapy
  • Genetic manipulation of animals for modeling disease and investigating gene function
  • Genetic approaches to treating disease.
This work provides guidance on the principles underlying modern human molecular genetics. This new edition has been updated to take account of the changes in our understanding of this field since the late 1990s.
Science Library (Li and Ma)
BIO-118-01
Book
xxvii, 542 p. : ill. (some col.) ; 27 cm.
  • UNIT 1 GENES AND GENOMES-- 1. The logic of genetic analysis-- 2. Model organisms and their genomes-- UNIT 2 GENES AND MUTANTS-- 3. Identifying mutants-- 4. Classifying mutants-- 5. Connecting a phenotype to a DNA sequence-- 6. Finding mutant phenotypes for cloned genes-- 7. Genome-wide mutant screens-- UNIT 3. GENE ACTIVITY-- 8. Molecular analysis of gene expression-- 9. Analysis of gene activity using mutants-- UNIT 4. GENE INTERACTIONS-- 10. Using one gene to find more genes-- 11. Epistasis and genetic pathways-- 12. Pathways, networks, and systems.
  • (source: Nielsen Book Data)9780199219827 20160528
How can we explore gene expression in time and space? How do we know what role a particular gene has? How do some genes control the expression of others? How do genes interact to form gene networks? Advanced Genetic Analysis probes fascinating questions such as these by asking "How can the principles of genetics be used as analytical tools to solve biological problems?" With its unique integration of genetics and molecular biology, Advanced Genetic Analysis provides a broad survey of how our understanding of key genetic phenomena can be used to understand biological systems. Opening with a brief overview of key genetic principles and model organisms, the book goes on to explore the use of gene mutations and the analysis of gene expression and activity, before considering the interaction of genes during suppression and epistasis, and how we study gene networks. Drawing on the latest experimental tools, including microarrays, RNAi, and bioinformatics approaches, Advanced Genetic Analysis provides a state-of-the-art review of the field, but in a truly student-friendly manner. It uses extended case studies and text boxes to augment the narrative, taking the reader right to the forefront of contemporary research without losing clarity of explanation and insight. We are in an age where, despite knowing so much about biological systems, we are just beginning to realise how much more there is still to understand. Advanced Genetic Analysis is the ideal guide to how we can use the awesome power of molecular genetics to further our understanding. Online Resource Centre The Online Resource Centre to accompany Advanced Genetic Analysis features the following resources for instructors and students. For instructors: Figures from the book in electronic format, ready to download. Journal club: suggested papers and discussion questions linked to topics covered in the book. For students: Hyperlinked bibliography, giving quicker access to literature related to the text. Guided tours of key websites, with associated tutorials/activities. Topical updates: key updates on topics or tools presented in the book, to keep you up-to-date with latest developments in the field.
(source: Nielsen Book Data)9780199219827 20160528
Science Library (Li and Ma)
BIO-118-01