Medical genetics Books
Springer-Verlag Berlin and Heidelberg GmbH & Co. KG Inborn Metabolic Diseases: Diagnosis and Treatment
Book SynopsisThis 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.Table of ContentsI Diagnosis and treatment: General principles: 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures.- 4 Emergency Treatments II Disorders of Energy Metabolism 5 The Glycogen Storage Diseases and Related Disorders.- 6 Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Glucose and Monocarboylic Acid Monocarboxylate Transporters.- 9 Disorders of Creatine Metabolism.- 10 Disorders of the Oxidative Phosphorylation .- 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation and Riboflavin Metabolism.- 13 Disorders of Ketogenesis and Ketolysis III Small Molecule Disorders 14 Disorders of Galactose Metabolism.- 15 Disorders of Fructose Metabolism.- 16 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders.- 24 Disorders of Glutamine, Serine and Asparagine Metabolism.- 25 Disorders of Amino Acid Transport at the Cell Membrane.- 26 Cystinosis.- 27 Biotin-Responsive Disorders.- 28 Disorders of Cobalamin and Folate Transport and Metabolism.- 29 Disorders of Thiamine and Pyridoxine Metabolism.- 30 Disorders of Neurotransmission.- 31 Disorders of Peptide and Amine Metabolism.- 32 Disorders of Purine and Pyrimidine Metabolism.- 33 Disorders of Haem Biosynthesis.- 34 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc IV Complex Molecule Disorders and Cellular Trafficking Disorders 35 Disorders of intracellular triglycerides and phospholipid metabolism.- 36 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 37 Disorders of Isoprenoid/Cholesterol Synthesis.- 38 Disorders of Bile Acid Synthesis.- 39 Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis.- 40 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid- Lipofuscinoses.- 41 Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 42 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders.- 43 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism.- 44 Disorders of Cellular Trafficking V Appendices 45 Medications Used in the Treatment of Inborn Errors
£151.99
Springer Verlag, Singapore Disorders Differences of Sex Development: An
Book SynopsisThe new, fully updated edition of this successful book, brings together the combined experience of a leading dedicated unit over 25 years in delivering expert medical and surgical care to children with DSD (Disorders Differences of Sex Development) in a holistic environment. It documents the most recent advances in the molecular biology and embryology of sex development, and describes each variation in detail. The main focus of the book is on patients with variations with their anatomy and hormone function. New chapters describe the developments in the field in terms of definitions and incidence, the mental health of DSD patients and discuss the perspectives of patients families and support groups. The clinical presentation and approach to diagnosis are described both for babies and for children presenting later in childhood or at adolescence. The chapters on management highlight all the latest knowledge and include the shared wisdom of the authors on current controversies, such as the timing of surgical treatment. Finally, the authors describe their short-, medium-, and long-term outcomes, which demonstrate the strengths of holistic team management.Table of ContentsCurrent debate about definitions and the incidence of DSD.- The Molecular Basis of Gonadal Development and DSD .-Embryology of the Human Genital Tract.- Hormones Regulating Sex Development.- Questions About Gender: Children with Atypical.-Abnormal Embryology in DSD.- 46,XX DSD.- 46,XY DSD.- Mixed Sex Chromosome and Ovo-Testicular DSD.- Non-hormonal DSD.- Multiple Malformation Syndromes in DSD .- The Neonate with Ambiguous Genitalia.- DSD Later in Childhood .- The Adolescent or Young Adult with DSD .- Imaging in DSD.- Ethical Principles for the Management of Children with Disorders of Sex Development: A Systematic Approach for Individual Cases.- The Medical Management of Disorders of Sex Development.- Surgical Treatment in Infancy.- Laparoscopy for DSD.- The Family.- Genetic Counselling.- Cultural Differences and Controversies about Timing of Management.- A Long-Term Outcome Study of DSD in Melbourne.- Medical Management of Adolescents and Young Adults.- Gynaecological Management.- Psychological Management in Adolescence and Beyond.- Short-, Medium- and Long-Term Outcomes Following Surgery for Disorders of Sex Development at Royal Children’s Hospital.- Long-Term Outcome of Disorders of Sex Development: A World View.- Psychosocial issues and mental health in DSD patients.- Complete Androgen Insensitivity Syndrome: A Guide for Parents and Patients.- Perspectives of patients, families and support groups.- Additional Material .-Video .-Index.
£123.49
Springer Verlag, Singapore Hereditary Breast and Ovarian Cancer: Molecular
Book SynopsisThis highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease. Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.Table of Contents1 History, Advancements, and Future Strategies 2 Molecular basis of BRCA1 and BRCA2 - Homologous recombination deficiency and tissue-specific carcinogenesis 3 Genetic Testing 4 Variants of uncertain significances in hereditary breast and ovarian cancer 5 Genetic counseling in Hereditary Breast and Ovarian Cancer 6 Hereditary Breast Cancer 7 Hereditary Ovarian Cancer 8 Risk-Based Breast Cancer Screening 9 Chemoprevention for Breast Cancer 10 Chemoprevention for Ovarian Cancer 11 Risk-Reducing Mastectomy (RRM) 12 Risk-reducing salpingo-oophorectomy (RRSO) 13 Panel Testing 14 Germline Findings through Precision Oncology for Ovarian Cancer 15 Germline Findings from Genetic Testing for Breast Cancer 16 Hereditary Breast and Ovarian Cancer (HBOC) Database 17 Ethical Issues: Overview in Genomic analysis and Clinical Context 18 PARP Inhibitors-Mechanism of action 19 PARPi - Efficacy in Hereditary Breast Cancer 20 Efficacy of Poly ADP-Ribose Polymerase Inhibitors for Hereditary Ovarian Cancer
£116.99
Springer Verlag, Singapore Textbook on Cloning, Expression and Purification
Book SynopsisThis book is immensely useful for graduate students as well as researchers to understand the basics of molecular biology and Recombinant DNA Technology. It provides a comprehensive overview of different approaches for the synthesis of recombinant proteins from E. coli including their cloning, expression and purification. Recent advances in genomics, proteomics, and bioinformatics have facilitated the use of Recombinant DNA Technology for evaluating the biophysical and biochemical properties of various proteins. The book starts with an introductory chapter on gene cloning, protein expression and purification and its implication in current research and commercial applications. Each chapter provides a lucid set of principles, tools and techniques for both students and instructors. The protocols described have been aptly exemplified, and troubleshooting techniques have been included to aid better understanding. Moreover, the set of questions at the end of each chapter have been particularly formulated to help effective learning.Table of ContentsModule 1_Introduction.- Chapter 1. History of recombinant DNA technology.- Chapter 2. Overview of technology.- Chapter 3. It’s impact on research.- Module 2_Cloning basics.- Chapter 3. c-DNA library.- Chapter 4. PCR amplification.- Chapter 5. Restriction Digestion.- Chapter 6. Ligation.- Chapter 7. Colony screening.- Chapter 8. Transformation.- Chapter 9. Trouble-shooting.- Chapter 10. Problems.- Module 3_Choice of vectors (expression and cloning).- Chapter 11. Different types of vectors.- Chapter 12. Promoters.- Chapter 13. Antibiotic selection.- Chapter 14. Sequence confirmation.- Chapter 15. Trouble-shooting.- Chapter 16. Problems.- Module 4_Transformation and protein expression.- Chapter 17. Competent cell preparation.- Chapter 18. Transformation methods.- Chapter 19. Different bacterial strains (E. coli, Pseudomonas, Streptomyces).- Chapter 20. Optimizing protein expression (different inducers, temperature, concentration of inducers).- Chapter 21. Expression in insect cells.- Chapter 22. Trouble-shooting.- Chapter 23. Problem. Module 5_Protein purification.- Chapter 24. Lysis and extraction.- Chapter 25. Checking solubility and designing purification strategies.- Chapter 26. Databases and tools to determine physico-chemical properties of protein.- Chapter 27. Salting out and salting in methods.- Chapter 28. Dealing with proteins in inclusion bodies.- Chapter 29. Choice of buffer and dialysis.- Chapter 30. Overview of chromatography.- Chapter 31. Choice of chromatographic techniques with specific examples.- Chapter 32. Trouble-shooting.- Chapter 33. Problems.- Module 6_Affinity chromatography.- Chapter 34. Overview.- Chapter 35. His6.- Chapter 36. Cobalt.- Chapter 37. Streptavidin.- Chapter 38. MBP.- Chapter 39. GST.- Chapter 40. Trouble-shooting.- Chapter 41. Problems.- Module 7_Ion exchange chromatography.- Chapter 42. Overview.- Chapter 43. Cation exchange.- Chapter 44. Anion exchange.- Chapter 45. Choice of different combination of chromatographic techniques with examples.- Chapter 46. Trouble-shooting.- Chapter 47. Problems.- Module 8_Gel filtration chromatography.- Chapter 48. Overview.- Chapter 49. Different columns.- Chapter 50. HPLC.- Chapter 51. FPLC.- Chapter 52. Trouble-shooting.- Chapter 53. Problems.- Module 9_Purification of difficult proteins.- Chapter 54. Insoluble protein purification.- Chapter 55. Toxic protein purification.- Chapter 56. Membrane protein purification.- Chapter 57. Trouble-shooting.- Chapter 58. Problems .- Module 10_Quantitation and characterization.- Chapter 59. Need for protein quantitation.- Chapter 60. Different methods (Bicinchoninic Acid (BCA), Bradford, Folin-Lowry, Kjeldahl, UV absorption).- Chapter 61. Calculation of protein concentration.- Chapter 62. Purity calculation.- Chapter 63. Trouble-shooting.- Chapter 64. Problems. Module 11_Characterizing recombinant proteins.- Chapter 65. Secondary structure (CD).- Chapter 66. Tertiary structure (CD, fluorescence).- Chapter 67. Functional studies (protease, kinase, phosphatase etc).- Chapter 68. Preliminary Biochemical assays.- Chapter 69. Trouble-shooting.- Chapter 70. Problems.
£132.99
Springer Verlag, Singapore Gene Delivery
Book SynopsisGene therapy has been regarded as a great potential for specific treatment of gene-related human diseases, such as cancer, genetic and epidemic diseases. Gene therapy refers to the biomedical technology that inserts normal or therapeutic exogenous genes into target cells to repair or replace defective genes in target cells, so as to achieve the purpose of treating diseases. Efficient gene delivery systems are the crucial roles for successful implementation of gene therapy. This book provides a platform for young scholars and students to systematically understand the preparation and characterization of the existing non-viral gene delivery systems, as well as providing a technology platform for clinical gene therapyTable of ContentsOverview on gene therapy.- Cationic liposome.- Functionalized peptide dendrimers.- Bioresponsive poly(amido amine)s.- Cationic polyphosphoesters.- Polysaccharide-based gene carriers.- Polypeptide-based gene carriers.- Fluorinated gene carriers.- Target gene delivery systems.- Cationic helical polypeptides.- Cyclic cationic polymers.- Cationic bolaamphiphile.- Chitosan-functionalized gene carriers.- Charge-reversal gene carriers.- Multifunctional envelope-type nanodevice.- Drug and gene co-delivery systems.- Oral delivery of gene therapy.- Gene therapy for brain diseases.
£313.49
Springer Verlag, Singapore Current Thoughts on Dementia: From Risk Factors
Book SynopsisThis informative book discusses the latest research on the risk factors and therapeutics in dementia. WHO calls dementia a public health priority. Dementia manifests as a group of symptoms associated with decline in memory or other thinking skills and is severe enough to reduce a person's ability to perform everyday activities. It occurs frequently among elderly people, but it is not necessarily part of the normal aging process. The book has been divided into two broad sections. The first section reviews the risk factors involved in developing dementia, including various medical conditions, lifestyle choices, as well as genetics. The latter section describes various therapeutic interventions in dementia. Although there is no known cure for dementia, this book underlines the current treatment strategies that could momentarily reduce the symptoms and improve the quality of life of the patients. This book highlights the global effort to find better ways to halt the progression of dementia and develop novel therapeutic strategies. The book would be an interesting read for advanced graduate students and researchers working in the field of neuroscience, genetics, and medicine. It will generate good interest to neurologists, psychiatrists, geriatricians, cardiologists, internal medicine practitioners, epidemiologist, and public health workers.Table of ContentsRisk Factors § Apolipoprotein E (APOE) § Histone modifications, demethylation, and microRNA regulation § Triggering receptor expressed on myeloid cells 2 (TREM2) § Brain-derived neurotrophic factor (BDNF) § Bridging integrator 1 (BIN1) § Protein tyrosine phosphatase 1B (PTP1B) § Leptin signaling § Insulin signaling § Autophagic dysfunction § Ubiquitin-proteasome system dysfunction § Circadian dysfunction § Endoplasmic Reticulum Stress § Depression § Normal pressure hydrocephalus § Antiphospholipid antibodies § Sex hormones § Changes in blood factors § Infection-induced systemic inflammation § Microbiota § Abdominal visceral fat § Atypical microvascular morphology § Plasma exosomes spread § Changes in visual cortex § Obesity, dyslipidemia, hyperglycemia and hypertension § Environmental pollutions Therapeutic Interventions § NMDA receptor antagonists § Calcium channel blockers § Catecholamine § Statins § Immunotherapy § Quitting smoking § Physical activity § Diet and nutrition § Natural products as promising drug candidates § Nanotechnological applications § Electroacupuncture § Repetitive transcranial magnetic stimulation § Transcranial direct current stimulation § Reminiscence therapy § Reality orientation therapy § Bright-light therapy § Snoezelen multi-sensory stimulation § Behavioral therapy § Brain-computer interface applications § Music therapy § Hypoxic-hyperoxic training § Cognitive rehabilitation § Cognitive creativity § Stem cell research
£179.99
Springer Verlag, Singapore Statistical Methods in Human Genetics
Book SynopsisThis book provides an overview of statistical concepts and basic methodology for the study of genetics of human traits and diseases. It attempts to provide a step-by-step description of problem identification, study design, methodology of data collection, data exploration, data summarization and visualization, and more advanced analytical methods for inferring genetic underpinnings of human phenotypes. The book provides codes in R programming language for implementation of most of the statistical methods described, which will enable practitioners to perform analysis of data on their own, without having to mold the data to fit the requirements of commercial statistical packages. Useful to anyone engaged in studies to understand and manage good health, the book is a useful guide for sustainable development of humankind. Primarily intended for practicing biologists especially those who carry out quantitative biological research, in particular, human geneticists, the book is also helpful in classroom teaching.Table of ContentsIntroduction to analysis of human genetic data.- Basic understanding of single gene expression data.- Basic probability theory and inference.- Analysis of single gene expression data.- Analysis of gene expression data in a dependent set up.- Tying genomes with disease.- Some extensions of genetic association study.- Exploring multivariate data.
£87.99
Springer Verlag, Singapore Targeting Epigenetics in Inflammatory Lung
Book SynopsisThis book discusses the role of epigenetics in pathogenesis of different pulmonary diseases, including chronic obstructive pulmonary disease, lung cancer, pulmonary tuberculosis, idiopathic pulmonary fibrosis and pulmonary infections. It also explores post-translational modifications in DNA and histones for improving the understanding of lung diseases. This book helps in understanding the epigenetic mechanisms towards the development of novel diagnostic and therapeutic approaches. Further, the book provides insight into the underlying molecular mechanisms involved in the epigenetic regulation of inflammation, which may have novel implications in designing small molecule inhibitors that target the epigenetic machinery for the effective treatment of a variety of inflammation‑related diseases. This book is a valuable resource for academics, research and industry professionals working in respiratory biology.Table of ContentsChapter 1. Introduction to Lung Diseases.- Chapter 2. Introduction to Epigenetics.- Chapter 3._Epigenetic mechanisms in Inflammation.- Chapter 4. Epigenetic regulator of inflammatory gene expression.- Chapter 5. Epigenetics of Asthma.- Chapter 6_. Epigenetic optimization in chronic obstructive pulmonary disease (COPD.- Chapter 7. Epigenetics of Lung Cancer.- Chapter 8. Epigenetics of Pulmonary Tuberculosis.- Chapter 9. Epigenetics of Idiopathic Pulmonary Fibrosis.- Chapter 10. Epigenetics of influenza-A virus infection.- Chapter 11. Epigenetics of rhinovirus.- Chapter 12. Epigenetics of SARS-Cov2 (Covid-19).- Chapter 13. Epigenetics of Haemophilus Influenzae.- Chapter 14. Future Prospects and Challenges.- Chapter 15. Targeting epigenetics in pulmonary arterial hypertension.
£125.99
Almuzara Eso No Estaba En Mi Libro de Genetica
Book Synopsis
£19.67
Taylor & Francis Forensic DNA Profiling
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Taylor & Francis Ltd The Human Genome in Health and Disease
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Taylor & Francis Ltd Nutrients and Epigenetics
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Taylor & Francis Ltd Cancer Epigenetics
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Taylor & Francis Ltd Genetics of Asthma and Chronic Obstructive Pulmonary Disease
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Taylor & Francis Ltd Neurobehavioral Genetics
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Taylor & Francis Ltd Phytochemicals NutrientGene Interactions
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Taylor & Francis Ltd Malignant Hyperthermia A Genetic Membrane Disease
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Taylor & Francis Ltd Precision Medicine in Cancers and NonCommunicable Diseases
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Taylor & Francis Ltd The Coronary Heart Disease Pandemic in the Twentieth Century
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Taylor & Francis Breast Cancer Gene Research and Medical Practices
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Taylor & Francis Ethics Reproduction and Genetic Control
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Taylor & Francis Genetic Databases
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Taylor & Francis Genetic Databases
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Taylor & Francis Ltd Textbook of Medical Oncology
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Taylor & Francis Risky Genes
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Taylor & Francis Gender and Genetics
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Taylor & Francis Genetics and Global Public Health
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Taylor & Francis The Gene the Clinic and the Family
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Taylor & Francis Ltd The Economics of Knowledge Innovation and Systemic Technology Policy
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Taylor & Francis Forensic DNA Profiling
Book SynopsisDNA testing and its forensic analysis are recognized as the gold standard in forensic identification science methods. However, there is a great need for a hands-on step-by-step guide to teach the forensic DNA community how to interpret DNA mixtures, how to assign a likelihood ratio, and how to use the subsequent likelihood ratio when reporting interpretation conclusions.Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios will provide a roadmap for labs all over the world and the next generation of analysts who need this foundational understanding. The techniques used in forensic DNA analysis are based upon the accepted principles of molecular biology. The interpretation of a good-quality DNA profile generated from a crime scene stain from a single-source donor provides an unambiguous result when using the most modern forensic DNA methods. Unfortunately, many crime scene profiles are not single source. They are described as mixedTable of Contents1: An Introduction and Review of DNA Profile Interpretation2: An Introduction to Statistics and Proposition Setting3: Assigning the LR: Single-Source Examples Population Genetics Models4: Application of the Binary LR for Mixtures5: LRs Considering Relatives as Alternate Contributors6: Probabilistic Genotyping: Semicontinuous Models7: Probabilistic Genotyping: Continuous Models8: Considerations on Validation of Probabilistic Genotyping SoftwareAppendix 1: Allele FrequenciesAppendix 2: Model Answers
£45.99
Taylor & Francis Ltd Cytogenetics and Molecular Cytogenetics
Book SynopsisGenomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies.KEY FEATURES Provides clear summaries of fluorescence in situ hybridization technologies and others Comprehensively covers established and emerging methods Chapters from an international team of leading researchers Useful for students, researchers and cliniciansTable of ContentsSeries Preface. Preface. Acknowledgements. Editor. List of Contributors. Chapter 1 Cytogenetics and Chromosomics. Chapter 2 Banding Cytogenetics. Chapter 3 Generation of Microdissection-Derived Painting Probes from Single Copy Chromosomes. Chapter 4 FISH—An Overview. Chapter 5 FISH—Microscopy and Evaluation. Chapter 6 FISH—in Routine Diagnostic Settings. Chapter 7 FISH—in Leukemia Diagnostics. Chapter 8 FISH—in Tissues. Chapter 9 FISH—in Human Sperm and Infertility. Chapter 10 FISH—in Spontaneously Aborted Products of Conception. Chapter 11 FISH—Characterization of Chromosomal Alterations, Recombination, and Outcomes after Segregation. Chapter 12 Multicolor-FISH—Methods and Applications. Chapter 13 FISH—Centromere- and Heterochromatin-Specific Multicolor Probe Sets. Chapter 14 FISH—Detection of Individual Radio Sensitivity. Chapter 15 FISH—Detection of CNVs. Chapter 16 FISH—Interphase Applications Including Detection of Chromosome Instability (CIN). Chapter 17 FISH—Determination of Telomere Length (Q-FISH/CO-FISH). Chapter 18 FISH—in Three Dimensions—3D-FISH. Chapter 19 FISH—On Fibers. Chapter 20 FISH—and Single-Cell Gel Electrophoresis Assay (Comet Assay). Chapter 21 Molecular Karyotyping. Chapter 22 FISH—Mitochondrial DNA. Chapter 23 FISH—in Birds. Chapter 24 FISH—in Fish Chromosomes. Chapter 25 FISH—and the Characterization of Synaptonemal Complex. Chapter 26 RNA-FISH—on Lampbrush Chromosomes: Visualization of Individual Transcription Units. Chapter 27 FISH—in Insect Chromosomes. Chapter 28 FISH—in Plant Chromosomes. Chapter 29 FISH—and CRISPR/CAS9. Index.
£99.75
Taylor & Francis Ltd A Guide to Bioethics
Book SynopsisSolving intractable biotechnological questions of evolution, medicine, and genetics is now easier due to methods permitting the rapid analysis of molecular sequence data. These advances have exposed ethical and policy concerns. How would genomic information be used and by whom? Should individuals be able to make decisions regarding their own genomic data? How accurate are these genetic tests and how should they be regulated? These and other ethical conundrums are the subject of this book. Bioethicists, biomedical policy experts and lawyers, physicians, nursing and allied health students as well as science educators will find this book helpful and engaging in exploring the complexities of modern evolutionary, genetic and biomedical data.Table of ContentsA General Introduction. Ethics. The Bioethics of Genetics. Law and Bioethics. Genes and Patents. Genetic Bioengineering. Gene Editing. Ethico-Regulatory Trends. Conclusions and Perspectives.
£32.99
Taylor & Francis Ltd Down Syndrome and Alzheimer's Disease
Book SynopsisThis is the first book in the field to address the underlying biological abnormalities of Dementia in Alzheimer’s Disease (DAD) in people with Down syndrome. It brings together research findings relating to the neuropathology, genetics, blood markers and neurophysiology of Alzheimer’s disease in older adults with Down syndrome. Down Syndrome and Alzheimer’s Disease presents vital information to medical professionals who provide clinical care to people with Alzheimer’s disease and Down syndrome. It will also be of great benefit to researchers with an interest in Alzheimer’s disease and Down syndrome and academics researching ageing issues in people with Down Syndrome. It complements Alzheimer's Disease and Dementia in Down Syndrome and Intellectual Disabilities by the same author.Trade Review"'Significant, important, excellent. It provides a comprehensive 'state of the art' analysis. Not only is dementia in Alzheimer's disease emerging as the greatest challenge for those charged with the health and community care of people who are ageing with an intellectual disability; it is a similar challenge for the dramatically increasing numbers of older people in the general population. The scientific community investigating one of the most serious health challenges facing adults with an intellectual disability is indebted to Dr Vee Prasher and colleagues for this scholarly contribution to the study of the biological correlates of dementia in Alzheimer's disease in adults with Down syndrome. This important collection of the most recent research findings in this field of enquiry will further stimulate efforts to develop treatments that may ameliorate the condition; delay its onset, and ultimately provide means for prevention.' Trevor R Parmenter, in the Foreword"Table of ContentsOverview of Alzheimer’s disease in Down syndrome. Neuropathology of Alzheimer’s disease in Down syndrome. Genetics, Alzheimer’s disease and Down syndrome. Amyloid beta and tau Proteins in Alzheimer’s disease and Down syndrome. Down syndrome, dementia, and superoxide dismutase. Macrocytosis: a peripheral marker for dementia in Alzheimer’s disease in adults with Down syndrome? Thyroid function, dementia and Down syndrome. Neurophysiological changes associated with dementia in Down syndrome. Neuroimaging studies of persons with Down syndrome. Concluding remarks
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Cambridge University Press Familial Breast and Ovarian Cancer
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Cambridge University Press Basic Mutagenicity Tests
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Cambridge University Press The Consequences of Chromosome Imbalance Principles Mechanisms and Models 18 Developmental and Cell Biology Series Series Number 18
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Cambridge University Press Neurodevelopment and Schizophrenia
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Cambridge University Press PraderWilli Syndrome
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Cambridge University Press Basic Mutagenicity Tests UKEMS Recommended Procedures 001 Ukems SubCommittee on Guidelines for Mutagenicity Testing Report Part I Revised
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Cambridge University Press Small Molecule Therapy for Genetic Disease
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Cambridge University Press Genetics Health Care and Public Policy
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Cambridge University Press Genes and Common Diseases Genetics in Modern Medicine
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Cambridge University Press Coopers Toxic Exposures Desk Reference with CDROM
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Cambridge University Press Medical Physiology
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Cambridge University Press The Troubled Helix Social and Psychological Implications of the New Human Genetics
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Cambridge University Press A Clinical Guide to Inherited Metabolic Diseases
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