Molekulare Humangenetik

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Author: Tom Strachan,Andrew P. Read

Publisher: Spektrum Akademischer Verlag

ISBN: 9783827414939

Category: Science

Page: 802

View: 8551

Die vorliegende 3. Auflage der Molekularen Humangenetik ist völlig neu überarbeitet - unter Berücksichtigung der Entdeckungen, die im Zuge und in der Folge des Human Genome Project gemacht wurden. Die einführenden Kapitel (Teil I) beschreiben die Grundlagen wie DNA-Struktur und -Funktion, Chromosomen, Zellen und Entwicklung, Stammbaumanalysen und grundlegende Techniken im Labor. In Teil II werden die verschiedenen Genomsequenzierungsprojekte und die dadurch ermöglichten Einblicke in Organisation, Expression, Variabilität und Evolution des menschlichen Genoms gezeigt. Die Kartierung, Identifizierung und Diagnose der Ursachen von mendelnden und komplexen Krankheiten sowie Krebs ist Schwerpunkt von Teil III. Der letzte Teil gibt Ausblicke auf die funktionelle Genomik und Bioinformatik, auf Tiermodelle und Therapien. Das Buch soll eine Brücke bilden zwischen den grundlegenden Lehrbüchern und der Forschungsliteratur, sodass auch Interessierte mit relativ wenig Hintergrundwissen zum Thema die neuesten Forschungsergebnisse lesen und beurteilen können.

Human Molecular Genetics 3

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Author: T. Strachan,Andrew P. Read

Publisher: Garland Science

ISBN: 9780815341840

Category: Science

Page: 674

View: 8337

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

An Introduction to Human Molecular Genetics

Mechanisms of Inherited Diseases

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Author: Jack J. Pasternak

Publisher: John Wiley & Sons

ISBN: 047171917X

Category: Science

Page: 656

View: 2005

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

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Author: N.A

Publisher: Academic Press

ISBN: 0080536417

Category: Science

Page: 500

View: 3762

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.

Taschenlehrbuch Humangenetik

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Author: Jan Diether Murken,Tiemo Grimm,Elke Holinski-Feder,Klaus Zerres

Publisher: Georg Thieme Verlag

ISBN: 3132416886

Category: Medical

Page: 612

View: 3234

Ist die Krankheit erblich? Welchem Erbgang folgt sie? In kaum einer anderen Disziplin ist der Entstehungsmechanismus einer Erkrankung für die Betroffenen so wichtig wie in der Humangenetik. In diesem Taschenlehrbuch findest du Antworten auf solche Fragen. - Komplett: Das Buch enthält das gesamte Prüfungswissen im handlichen Taschenbuchformat. Die Schnelllese-Schiene unterstützt dich beim Wiederholen der Inhalte. - Mit starkem Klinikbezug: Die Krankheitsbilder werden zum besseren Verständnis direkt mit den theoretischen Grundlagen beschrieben und sind im Layout hervorgehoben. - Praxisrelevant: Alle wichtigen gentechnischen Methoden sind beschrieben. - Langfristig nützlich: Informationen, die über die reinen Prüfungsinhalte hinausgehen, machen das Buch zu einem ergänzenden Nachschlagewerk für klinische Fächer, z.B. für die Innere Medizin oder die Pädiatrie. Jederzeit zugreifen: Der Inhalt des Buches steht dir ohne weitere Kosten digital in der Wissensplattform eRef zur Verfügung (Zugangscode im Buch). Mit der kostenlosen eRef App hast du zahlreiche Inhalte auch offline immer griffbereit.

Human Molecular Genetics

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Author: Tom Strachan,Andrew Read

Publisher: Garland Science

ISBN: 1136844074

Category: Science

Page: 782

View: 408

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.

Human Molecular Genetics

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Author: Peter Sudbery,Ian Sudbery

Publisher: Benjamin-Cummings Publishing Company

ISBN: 9780132051576

Category: Education

Page: 445

View: 2537

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.

Protocols in Human Molecular Genetics

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Author: Christopher G. Mathew

Publisher: Springer Science & Business Media

ISBN: 1592594964

Category: Science

Page: 461

View: 2489

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.

Human Molecular Genetics

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Author: Peter Sudbery

Publisher: Pearson Education

ISBN: 9780130428110

Category: Science

Page: 364

View: 7836

This second 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. A milestone in science has been reached through the publication of draft sequences of the human genome and this is reflected in changes to the book. A new chapter details the methodology used, what was revealed about genome structure and evolution and how the genome sequence will be exploited in diagnosing and treating common diseases. The chapter on complex diseases has also been completely rewritten to reflect new strategies for searching for the genes involved in such disorders. Finally, the human genome project has opened up new prospects in population genetics and evolution and these are discussed in a rewritten chapter. Features * Concise, up-to-date introduction to the subject *Newchapters on sequencing and structure of the human genome *Newchapter on complex disorders, including population surveys using SNPs *Fully revisedchapter on human population genetics and evolution * Boxed case studies and techniques * Includes important genetic disorders and genetic counselling * References updated through a linked Web site. 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. Peter Sudbery is Senior Lecturer in Genetics at the Department of Molecular Biology and Biotechnology at the University of Sheffield. The Cell and Molecular Biology series provides introductions to key, exciting areas of cell and molecular biology, stimulating student's imaginations and initiative to bridge the gap between memorising concepts and the active approach needed for research and literature review projects. This active learning series also introduces students to experimental design and information retrieval and analysis, including exploration of the World Wide Web.

Human Molecular Genetics

Biology, Genetics

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Author: CTI Reviews

Publisher: Cram101 Textbook Reviews

ISBN: 1478404175

Category: Education

Page: 292

View: 5200

Facts101 is your complete guide to Human Molecular Genetics. In this book, you will learn topics such as as those in your book plus much more. With key features such as key terms, people and places, Facts101 gives you all the information you need to prepare for your next exam. Our practice tests are specific to the textbook and we have designed tools to make the most of your limited study time.

Human molecular genetics

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Author: T. Strachan,Andrew P. Read

Publisher: John Wiley & Sons

ISBN: 9780471133735

Category: Science

Page: 597

View: 4219

Now in its third edition, Human Molecular Genetics continues to provide authoritative guidance on the principles underlying human molecular genetics. The content and organization has been fully revised.

Human Molecular Genetics

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Author: Kenneth W. Adolph

Publisher: Elsevier

ISBN: 0120443104

Category: Cellular signal transduction

Page: 500

View: 1264

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.

Cracking the Genome

Inside the Race to Unlock Human DNA

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Author: Kevin Davies

Publisher: JHU Press

ISBN: 9780801871405

Category: Medical

Page: 327

View: 6505

This newly updated edition sheds light on the secrets of the sequence, highlighting the myriad ways in which genomics will impact human health for generations to come.

Molecular Genetics and the Human Personality

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Author: Jonathan Benjamin,Richard P. Ebstein,Robert H. Belmaker

Publisher: American Psychiatric Pub

ISBN: 9781585627608

Category: Medical

Page: 376

View: 3657

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.

Molecular Genetics & Gene Therapy of Cardiovascular Diseases

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Author: S. C. Mockrin

Publisher: CRC Press

ISBN: 9780824794088

Category: Science

Page: 616

View: 3776

Provides detailed discussions of the most recent developments in gene mapping and manipulation to improve the diagnosis, detection, prevention, and treatment of various cardiovascular diseases--including hypertension, arrhythmias, inherited cariomyopathies, hyperlipidemia, aortic aneurysms, Marfan syndrome, and myocardial infarction. Written by nearly 50 investigators on the cutting-edge of pioneering research in the field.

Human Molecular Biology

An Introduction to the Molecular Basis of Health and Disease

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Author: R. J. Epstein

Publisher: Cambridge University Press

ISBN: 9780521644815

Category: Medical

Page: 623

View: 1431

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.

Principles of Medical Genetics

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Author: Thomas D. Gelehrter,Francis S. Collins,David Ginsburg

Publisher: Lippincott Williams & Wilkins

ISBN: 9780683034455

Category: Medical

Page: 410

View: 1583

Problems and Solutions for Strachan and Read's Human Molecular Genetics

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Author: David Matthes

Publisher: Wiley-Liss

ISBN: 9780471384144

Category: Science

Page: 160

View: 3863

This problems and solutions book, covering the molecular aspects of human genetics, will serve as a companion to the second edition of Strachan and Read's Human Molecular Genetics. There will be 22 chapters divided into seven parts (Fundamentals of genes and chromosomes, Fundamentals of DNA technology, Features of the human genome, Mapping the human genome, Comparative genomics, Human genetic diseases, Dissecting and manipulating genes). Within each chapter, there will be 5 - 10 multi-part open-ended problems, 5-10 review questions, 10 multiple choice questions. Where appropriate bioinformatics questions will also be included. The book will be heavily illustrated consisting of approximately 100 black and white photos and 200 black and white line drawings that will be designed and formatted similarly to its companion textbook. While the problems book is intended as a companion to Human Molecular Genetics it can also be used independently from the textbook by both students and instructors. Where most problems books are priced for students we envision that the book will be purchased most frequently by instructors and thus have priced it accordingly. However it still remains within reach for students who can purchase the textbook and problems book for under $100.00.