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An Introduction To Human Molecular Genetics

Autor: Jack J. Pasternak
Publisher: John Wiley & Sons
ISBN: 047171917X
File Size: 18,83 MB
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An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Human Molecular Genetics 3

Autor: T. Strachan
Publisher: Garland Science
ISBN: 9780815341840
File Size: 23,61 MB
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Professors Tom Strachan & Andrew Read awarded the Education Award 2007 of the ESHG for their outstanding contribution to the dispersal of knowledge of modern human molecular genetics among students and professionals. Following the completion of the Human Genome Project the content and organization of the third edition of Human Molecular Genetics has been thoroughly revised. * Part One (Chapters 1-7) covers basic material on DNA structure and function, chromosomes, cells and development, pedigree analysis and the basic techniques used in the laboratory. * Part Two (Chapters 8-12) discusses the various genome sequencing projects and the insights they provide into the organisation, expression, variation and evolution of our genome. * Part Three (Chapters 13-18) focuses on mapping, identifying and diagnosing the genetic causes of mendelian and complex diseases and cancer. * Part Four (Chapters 19-21) looks at the wider horizons of functional genomics, proteomics, bioinformatics, animal models and therapy. There are new chapters on cells and development and on functional genomics. The sections on complex diseases have been completely rewritten and reorganized, as has the chapter on Genome Projects. Other changes include a new section on molecular phylogenetics (Chapter 12) and the introduction of 'Ethics Boxes' to discuss some of the implications of the new knowledge. Virtually every page has been revised and updated to take account of the stunning developments of the past four years since the publication of the last edition of Human Molecular Genetics. Features: * Integration of Human Genome Project data throughout the book * Two new chapters 'Cells and Development' (Chapter 3) and 'Beyond the Genome Project: Functional Genomics, Proteomics and Bioinformatics' (Chapter 19) * Completely rewritten and reorganised coverage of complex disease genetics * Increased emphasis on gene function and on applications of genetic knowledge, including ethical issues * More prominence given to novel approaches to treating disease, such as cell-based therapies, pharmacogenomics, and personalised medicine * Special topic boxes that include detailed coverage of ethical, legal and social issues, including eugenics, genetic testing and discrimination, germ-line gene therapy and genetic enhancement, and human cloning * Contains two indices: a general index and one that contains names of diseases and disorders Supplements: Art of HMG3 (CD-ROM) 0-8153-4183-0: £34.00

Human Molecular Genetics

Autor:
Publisher: Academic Press
ISBN: 0080536417
File Size: 24,23 MB
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Human Molecular Genetics is a practical guide to the applications of molecular biology and genetics techniques to human cells. A wide range of experimental procedures for investigating human genes and genomes are presented. * * Mutation Detection in Human Genes - chemical mismatch cleavage, DNA mini-sequencing, SSCP method, RT-PCR, electrophoretic mobility shift assay (EMSA), protein truncation test, chromosome deletion analysis. * Gene Mapping, Cloning, Sequencing - gene linkage determination, large-capacity cloning system, cDNA isolation, differential display method, primer-based DNA sequencing. * Transcription: Promoters, Transcription Factors, mRNA, - promotor mutation analysis, transcription factor identification, mRNA-protein interaction characterization. * RNA Editing, Ribozymes, Antisense RNA-mammalian RNA editing assays, ribozymes as genetic tools, antisense RNA technology. * Genome Recombination, Amplification - recombination assays for mammalian cells, gene amplification measurement. * Receptors, Signal Transduction - intra-cellular receptor characterization, analysis of signal transduction genes. * The Mouse as a Model System for Human Molecular Genetics - mouse genome methods (mouse crosses, somatic cell hybrids, YACs), mouse model for cardiovascular disease.

Human Molecular Genetics

Autor: Tom Strachan
Publisher: Garland Science
ISBN: 1136844074
File Size: 17,16 MB
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Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Molecular Genetics And The Human Personality

Autor: Jonathan Benjamin
Publisher: American Psychiatric Pub
ISBN: 9781585627608
File Size: 18,57 MB
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In the 1960's and 1970's, personality and mental illness were conceptualized in an intertwined psychodynamic model. Biological psychiatry for many un-weaved that model and took mental illness for psychiatry and left personality to psychology. This book brings personality back into biological psychiatry, not merely in the form of personality disorder but as part of a new intertwined molecular genetic model of personality and mental disorder. This is the beginning of a new conceptual paradigm!! This breakthrough volume marks the beginning of a new era, an era made possible by the electrifying pace of discovery and innovation in the field of molecular genetics. In fact, several types of genome maps have already been completed, and today's experts confidently predict that we will have a smooth version of the sequencing of the human genome -- which contains some 3 billion base pairs Such astounding progress helped fuel the development of this remarkable volume, the first ever to discuss the brand-new -- and often controversial -- field of molecular genetics and the human personality. Questioning, critical, and strong on methodological principles, this volume reflects the point of view of its 35 distinguished contributors -- all pioneers in this burgeoning field and themselves world-class theoreticians, empiricists, clinicians, developmentalists, and statisticians. For students of psychopathology and others bold enough to hold in abeyance their understandable misgivings about the conjunction of "molecular genetics" and "human personality," this work offers an authoritative and up-to-date introduction to the molecular genetics of human personality. The book, with its wealth of facts, conjectures, hopes, and misgivings, begins with a preface by world-renowned researcher and author Irving Gottesman. The authors masterfully guide us through Chapter 1, principles and methods; Chapter 4, animal models for personality; and Chapter 11, human intelligence as a model for personality, laying the groundwork for our appreciation of the remaining empirical findings of human personality qua personality. Many chapters (6, 7, 9, 11, and 13) emphasize the neurodevelopmental and ontogenetic aspects of personality, with a major emphasis on the receptors and transporters for the neurotransmitters dopamine and serotonin. Though these neurotransmitters are a rational starting point now, the future undoubtedly will bring many other candidate genes that today cannot even be imagined, given our ignorance of the genes involved in the prenatal development of the central nervous system. Chapter 3 provides an integrative overview of the broad autism phenotype, and as such will be of special interest to child psychiatrists. Chapters 5, 8, and 10 offer enlightening information on drug and alcohol abuse. Chapter 14 discusses variations in sexuality. Adding balance and mature perspectives on how all the chapters complement and sometimes challenge one another are Chapter 2, written by a major figure in the renaissance of the relevance to psychopathology of both genetics and personality; Chapters 15-17, informed critical appraisals citing concerns and cautions about premature applications of this information in the policy arena; and Chapter 18, a judicious contemplation by the editors themselves of this promising -- and, to some, alarming -- field. Clear and meticulously researched, this eminently satisfying work is written to introduce the subject to postgraduate students just beginning to develop their research skills, to interested psychiatric practitioners, and to informed laypersons with some scientific background.

Genotype To Phenotype

Autor: Sue Malcolm
Publisher: Gulf Professional Publishing
ISBN: 9780124662575
File Size: 18,77 MB
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This volume of the Human Molecular Genetics series covers such genotype-phenotype correlations as clinical and environmental aspects, gene structure, expression, and mutation. Also discussed are models of certain diseases and future prospects for treatment and prevention. This book provides the reader with a basic overview of the physical expression of genetic disease before discussing in detail the most recent research and therapeutic developments.

Analysis Of Multifactorial Disease

Autor: David Timothy Bishop
Publisher: Academic Press
ISBN:
File Size: 18,22 MB
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A fast moving research area where there is an ever-expanding interest, and which impacts upon a wide variety of genetic diseases. Important introductory section which considers the merits of methods employed in these studies, and examines factors which influence study design. Looks at the different approaches that have been taken to study complex inherited diseases by considering a variety of common diseases as models. Discusses the successes achieved through past studies, with implications for future research. Multifactorial or complex diseases are those characterized by increased risks within families, caused by more than one gene, and which predominantly have a tremendous impact on morbidity and mortality in the general public. Examples of multifactorial diseases include: common cancers - breast, bowel, ovary etc.: Alzheimer's; epilepsy; diabetes; multiple sclerosis; schizophrenia and manic depression; asthma; rheumatoid arthritis etc. Key Features * Introductory overview of genetic diseases and how they are identified * Concluding summary chapter looking at approaches taken and lessons learnt - and their relatived impacts * Section on methods of statistical analysis and design issues researchers should consider in their studies * Chapters focus on specific diseases as model systems and examples, and look at the application of different methodologies to different diseases

Human Molecular Genetics

Autor: T. Strachan
Publisher: Garland Science
ISBN: 9780815345893
File Size: 9,25 MB
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Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology. Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation. Key features: Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms Summary boxes at the end of each chapter provide clear learning points Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study Reorganized into five sections for improved access to related topics Also new to this edition - brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the 'go-to' book for those studying human molecular genetics or genomics courses around the world.

Human Molecular Genetics

Autor: Peter Sudbery
Publisher: Benjamin-Cummings Publishing Company
ISBN: 9780132051576
File Size: 9,30 MB
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This third edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field. Now updated and revised throughout, the material covered has been carefully selected and structured to provide a concise overview for students studying the subject as part of a general biology, genetics or medical degree. The text is aimed at courses in Human Genetics, Human Molecular Genetics and The Molecular Basis of Disease taught within Biology, Biochemistry, Biomolecular Sciences, Biomedical Sciences, Genetics and medical and other health-care degrees.

Human Molecular Biology

Autor: R. J. Epstein
Publisher: Cambridge University Press
ISBN: 9780521644815
File Size: 7,49 MB
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Human Molecular Biology is an introduction to the language of health and disease for the new generation of life scientists and medical students. By integrating cutting-edge molecular genetics and biochemistry with the latest clinical information, the book weaves a pattern which unifies biology with syndromes, genetic pathways with developmental phenotypes, and protein function with drug action. From the origins of life to the present day, a narrative is traced through the workings of genomes, cells and organ systems, culminating in linking of laboratory technologies to future research horizons.

Genome Structure And Function

Autor: C. Nicolini
Publisher: Springer Science & Business Media
ISBN: 940115550X
File Size: 21,93 MB
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Proceedings of the NATO Advanced Study Institute on Genome Structure and Function, held in Marciana Marina, Elba, Italy, 13-23 June 1996

Medical Molecular Genetics

Autor: P. A. Hoffee
Publisher: Wiley-Blackwell
ISBN:
File Size: 9,19 MB
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Medical Molecular Genetics is one of eight books in the Integrated Medical Sciences (IMS) Series from Fence Creek Publishing. Designed for first- and second-year medical students, they are ideal for use as textbooks, course supplements, or board preparation. The books in the IMS Series focus on the integration of core biomedical concepts and provide insights into the application of basic principles and processes to clinical medicine.

Protocols In Human Molecular Genetics

Autor: Christopher G. Mathew
Publisher: Springer Science & Business Media
ISBN: 1592594964
File Size: 26,28 MB
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Protocols in Human Molecular Genetics highlights the tremendous advances in our ability to work on the human genome that have emerged in the past few years. The latest techniques are set forth in the clear, concise, easy-to-follow format that is the hallmark of Humana's Methods in Molecular Biology series. Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications. An essential tool for everyone - whether novice or seasoned expert - involved in the rapidly growing area of human genome studies.

Self Assessment Questions For Clinical Molecular Genetics

Autor: Haiying Meng
Publisher: Academic Press
ISBN: 0128099682
File Size: 30,55 MB
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Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge. Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam Assists trainees on how to follow guidelines and put them in practice

Statistics In Human Genetics And Molecular Biology

Autor: Cavan Reilly
Publisher: CRC Press
ISBN: 9781420072648
File Size: 18,28 MB
Format: PDF
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Focusing on the roles of different segments of DNA, Statistics in Human Genetics and Molecular Biology provides a basic understanding of problems arising in the analysis of genetics and genomics. It presents statistical applications in genetic mapping, DNA/protein sequence alignment, and analyses of gene expression data from microarray experiments. The text introduces a diverse set of problems and a number of approaches that have been used to address these problems. It discusses basic molecular biology and likelihood-based statistics, along with physical mapping, markers, linkage analysis, parametric and nonparametric linkage, sequence alignment, and feature recognition. The text illustrates the use of methods that are widespread among researchers who analyze genomic data, such as hidden Markov models and the extreme value distribution. It also covers differential gene expression detection as well as classification and cluster analysis using gene expression data sets. Ideal for graduate students in statistics, biostatistics, computer science, and related fields in applied mathematics, this text presents various approaches to help students solve problems at the interface of these areas.

Essential Concepts In Molecular Pathology

Autor: William B. Coleman
Publisher: Academic Press
ISBN: 9780080922188
File Size: 16,14 MB
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This streamlined "essential" version of the Molecular Pathology (2009) textbook extracts key information, illustrations and photographs from the main textbook in the same number and organization of chapters. It is aimed at teaching students in courses where the full textbook is not needed, but the concepts included are desirable (such as graduate students in allied health programs or undergraduates). It is also aimed at students who are enrolled in courses that primarily use a traditional pathology textbook, but need the complementary concepts of molecular pathology (such as medical students). Further, the textbook will be valuable for pathology residents and other postdoctoral fellows who desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. Offers an essential introduction to molecular genetics and the "molecular" aspects of human disease Teaches from the perspective of "integrative systems biology," which encompasses the intersection of all molecular aspects of biology, as applied to understanding human disease In-depth presentation of the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease using histopathology. "Traditional" pathology section provides state-of-the-art information on the major forms of disease, their pathologies, and the molecular mechanisms that drive these diseases. Explains the practice of "molecular medicine" and the translational aspects of molecular pathology: molecular diagnostics, molecular assessment, and personalized medicine Each chapter ends with Key Summary Points and Suggested Readings

Protocols In Human Molecular Genetics

Autor: Christopher G. Mathew
Publisher: Springer Science & Business Media
ISBN: 1592594964
File Size: 19,32 MB
Format: PDF, ePub, Mobi
Read: 8706
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Protocols in Human Molecular Genetics highlights the tremendous advances in our ability to work on the human genome that have emerged in the past few years. The latest techniques are set forth in the clear, concise, easy-to-follow format that is the hallmark of Humana's Methods in Molecular Biology series. Nearly two-thirds of the book is devoted to describing practical procedures comprising the widest range of new methodologies in human molecular genetics, with the rest focusing on their specific experimental and clinical applications. An essential tool for everyone - whether novice or seasoned expert - involved in the rapidly growing area of human genome studies.

Craniosynostoses

Autor: M. Muenke
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805595956
File Size: 15,96 MB
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Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units.This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.

An Introduction To Human Molecular Genetics

Autor: Jack J. Pasternak
Publisher: John Wiley & Sons
ISBN: 047171917X
File Size: 14,57 MB
Format: PDF, ePub
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An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.