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New Clinical Genetics

New Clinical Genetics Author Andrew P. Read
ISBN-10 1904842801
Release 2011
Pages 442
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From reviews: “There is no comparable book on the market; in fact, this is the best teaching tool currently available. The case study methodology is unique and extremely effective. The authors have outdone themselves and congratulations are in order.” Doody's Reviews, Jan 2012 “This text is a must-read for anyone wishing to stay current with the fast-paced field of clinical genetics.” OrphaNews Europe From reviews of the first edition: “Very few books have attempted to do what the authors have accomplished so well. They make genetics simple, attractive, and real. They provide a link between daily situations in the practice of clinical genetics and the complex information available in human genetics. I look forward to subsequent editions of this wonderful work.” Doody’s Notes “This book provides a wonderful case-based learning environment. There are also self assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!” Human Genetics “This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge.” European Journal of Human Genetics “The book can also be read through the case studies which span the chapters and follow the experience of individual families to illustrate specific points. This is a novel approach and, as in real life, the information on families is slowly teased out, covering a combination of topics. The use of such case studies brings genetics to life.” Ulster Medical Journal The second edition of New Clinical Genetics has been comprehensively updated, but the unique structure and format of the first edition have been retained. New cases have been introduced covering Fragile X and the identification of an underlying chromosome problem by SNP chip analysis. While many of the basic scientific principles remain, much new material has been added: · SNP arrays and next generation sequencing (including whole exome sequencing) are described and their impact on clinical genetic services discussed · noncoding RNAs are covered in more detail · developmental pathways are discussed in the context of the RAS–MAPK pathway · the value and limitations of genome-wide association studies for identifying susceptibility to common diseases are reviewed in the light of the extensive experimental data now available · the final chapter has been substantially enlarged to show how genetic services are delivered and the increasing role of clinical geneticists in patient management The innovative integrated case-based approach coupled with the clear writing style of the authors has made this book a hugely successful textbook for medical students worldwide. It is also an essential guide to modern medical genetics for all those involved in the field, from clinical and nurse geneticists to genetic counselors. Printed in full colour throughout.



New Clinical Genetics

New Clinical Genetics Author Read
ISBN-10 1907904670
Release 2015-01-06
Pages 472
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Instructors' comments on new, 3rd, edition: "I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel." "I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!" "I LIKE IT A LOT!!" "The book looks good and we will certainly be recommending it for our medical genetics course this autumn." "This is a fantastic book that I enjoy so much teaching from." "I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end." "I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it." "It's great. I will recommend the book as a main text for the medical student class." In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: *the widespread use of next-generation sequencing as a routine diagnostic tool *the checking of a patient's whole exome for the cause of their problem *noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation *a new integrated treatment of epigenetics *mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes *dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists. Reviews of earlier editions: "This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!" Human Genetics "This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge." European Journal of HumanGenetics



New Clinical Genetics

New Clinical Genetics Author Andrew P. Read
ISBN-10 WISC:89091395426
Release 2007
Pages 428
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New Clinical Genetics provides all those involved in medical genetics with a unique clinical guide based on post-genomic technologies. This first edition has been superseded by a new edition, launched October 2010.



Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Author Helen V. Firth
ISBN-10 9780192519832
Release 2017-09-12
Pages 824
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A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.



Human Molecular Genetics 3

Human Molecular Genetics 3 Author T. Strachan
ISBN-10 0815341849
Release 2004
Pages 674
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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



Medical Genetics at a Glance

Medical Genetics at a Glance Author Dorian J. Pritchard
ISBN-10 9781118689011
Release 2013-07-08
Pages 232
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Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.



Management of Genetic Syndromes

Management of Genetic Syndromes Author Suzanne B. Cassidy
ISBN-10 9781118210673
Release 2011-09-20
Pages 984
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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics



A Handbook of Clinical Genetics

A Handbook of Clinical Genetics Author J. S. Fitzsimmons
ISBN-10 9781483140988
Release 2013-10-22
Pages 168
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A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.



Introduction to Veterinary Genetics

Introduction to Veterinary Genetics Author Frank W. Nicholas
ISBN-10 9781118697580
Release 2013-05-30
Pages 328
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The concepts of veterinary genetics are crucial to understanding and controlling many diseases and disorders in animals. They are also crucial to enhancing animal production. Accessible and clearly presented, Introduction to Veterinary Genetics provides a succinct introduction to the aspects of genetics relevant to animal diseases and production. Now in its third edition, this is the only introductory level textbook on genetics that has been written specifically for veterinary and animal science students. Coverage includes: basic genetics, molecular biology, genomics, cytogenetics, immunogenetics, population genetics, quantitative genetics, biotechnology, and the use of molecular tools in the control of inherited disorders. This book describes in detail how genetics is being applied to artificial selection in animal production. It also covers the conservation of genetic diversity in both domesticated and wild animals. New for the Third Edition: End-of-chapter summaries provide quick recaps. Covers new topics: epigenetics, genomics and bioinformatics. Thoroughly revised according to recent advances in genetics. Introduction to Veterinary Genetics is still the only introductory genetics textbook for students of veterinary and animal science and will continue to be an indispensable reference tool for veterinary students and practitioners alike.



Pharmacogenetics Kinetics and Dynamics for Personalized Medicine

Pharmacogenetics  Kinetics  and Dynamics for Personalized Medicine Author David F. Kisor
ISBN-10 9781449633943
Release 2013-02-01
Pages 330
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Pharmacogenetics, Kinetics, and Dynamics for Personalized Medicine provides a primer to understand pharmacogenetics (the study of genetic factors that influence how a drug works) in the applied context of pharmacokinetics (how the body handles a drug) and pharmacodynamics (the effects of a drug on the body). This valuable foundation illuminates how these principles and scientific advances can create optimal individual patient care, that is, personalized medicine. Through specific drug examples, this resource explores how the genetic constitution of an individual may lead to the need for an altered dose or in some cases alternative drug therapy. Real-world cases highlight the specific relationships between genetics, drug action, and the body s response as well as adverse drug reactions, altered metabolism, and drug efficacy. Ethical issues concerning pharmacogenomics and study design are also discussed in this concise overview."



Principles and Practice of Clinical Research

Principles and Practice of Clinical Research Author John I. Gallin
ISBN-10 9780128499047
Release 2017-11-17
Pages 824
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Principles and Practice of Clinical Research, Fourth Edition has been thoroughly revised to provide a comprehensive look at both the fundamental principles and expanding practice of clinical research. New to this edition of this highly regarded reference, authors have focused on examples that broadly reflect clinical research on a global scale while including a discussion of international regulations, studies, and implications. In addition to key topics such as bioethics, clinical outcome data, cultural diversity, protocol guidelines, and “omic platforms, this edition contains new chapters devoted to electronic health records and information resources for clinical researchers, as well as the many opportunities associated with big data. Covering a vast number of topics and practical advice for both novice and advanced clinical investigators, this book is a highly relevant and essential resource for all those involved in conducting research. Features input from experts in the field dedicated to translating scientific research from bench to bedside and back Provides expanded coverage of global clinical research Contains hands-on, practical suggestions, illustrations, and examples throughout Includes new chapters on the international regulation of drugs and biologics, the emergence of the important role of comparative effectiveness research and how to identify clinical risks and manage patient safety in a clinical research setting



Genetic Analysis of Complex Disease

Genetic Analysis of Complex Disease Author Jonathan L. Haines
ISBN-10 9780471781134
Release 2006-05-05
Pages 512
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Second Edition features the latest tools for uncovering the genetic basis of human disease The Second Edition of this landmark publication brings together a team of leading experts in the field to thoroughly update the publication. Readers will discover the tremendous advances made in human genetics in the seven years that have elapsed since the First Edition. Once again, the editors have assembled a comprehensive introduction to the strategies, designs, and methods of analysis for the discovery of genes in common and genetically complex traits. The growing social, legal, and ethical issues surrounding the field are thoroughly examined as well. Rather than focusing on technical details or particular methodologies, the editors take a broader approach that emphasizes concepts and experimental design. Readers familiar with the First Edition will find new and cutting-edge material incorporated into the text: Updated presentations of bioinformatics, multiple comparisons, sample size requirements, parametric linkage analysis, case-control and family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environment interactions A completely rewritten and updated chapter on determining genetic components of disease New chapters covering molecular genomic approaches such as microarray and SAGE analyses using single nucleotide polymorphism (SNP) and cDNA expression data, as well as quantitative trait loci (QTL) mapping The editors, two of the world's leading genetic epidemiologists, have ensured that each chapter adheres to a consistent and high standard. Each one includes all-new discussion questions and practical examples. Chapter summaries highlight key points, and a list of references for each chapter opens the door to further investigation of specific topics. Molecular biologists, human geneticists, genetic epidemiologists, and clinical and pharmaceutical researchers will find the Second Edition a helpful guide to understanding the genetic basis of human disease, with its new tools for detecting risk factors and discovering treatment strategies.



Pediatric Genetics and Inborn Errors of Metabolism

Pediatric Genetics and Inborn Errors of Metabolism Author Christine M. Houser
ISBN-10 9781493905812
Release 2014-04-12
Pages 139
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Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.



Medical Genetics

Medical Genetics Author Lynn B. Jorde
ISBN-10 9780323188357
Release 2015-09-04
Pages 356
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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. Includes access to the complete text and images online at studentconsult.com along with 200 additional USMLE-style questions for self-assessment. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Student Consult eBook version included with purchase. This enhanced eBook experience allows access to 200 additional USMLE questions, as well as new materials (outlined above) designed to produce a more rounded learning experience.



Counseling About Cancer

Counseling About Cancer Author Katherine A. Schneider
ISBN-10 9781118119914
Release 2011-10-26
Pages 496
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Important scientific discoveries and ever-changing guidelines for how to identify and manage patients with hereditary cancer syndromes are constantly evolving. This Third Edition of Counseling About Cancer is completely updated and expanded to feature five entirely new chapters on breast cancer, colon cancer, other solid tumors, clients and families, and genetic test results and follow-up. This is the only reference and clinical book on the market for cancer genetics counselors and other healthcare providers who must quickly assimilate complex and ever-changing data on the hereditary risk for cancer.



ABC of Clinical Genetics

ABC of Clinical Genetics Author Helen M. Kingston
ISBN-10 0727911015
Release 1997-06-04
Pages 84
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Genetics is now a part of everyday medicine, and the demand for genetic investigation and counselling is increasing. It is vital that all doctors are informed about the subject anf it's possibilities, but many are put off by the complex concepts involved With the help of many high quality illustrations, the ABC of Clinical Gentics explains in simple terms genetic mechanisms and analysis, and gives all of the clinical information necessary for doctors and other health professionals to advise patients on genetic disorders. It also discusses the implications of these diseases for relatives and the ethical human dilemmas involved. Topics include: Inheritance, estimation of risk, and detection of carriers Chromosomal disorders Genetics of common disorders Genitics of cancer Dysmorphology and teretogenesis Gene structure and function DNA analysis This second edition has been fully updated and has further chapters dealing with new aspects of inheritance and new Knowledge of molecular genetics of common disorders. It provides a simple but comprehensive introduction to clinical genetics for doctors, medical students, nurses and midwives.



Clinical Respiratory Medicine

Clinical Respiratory Medicine Author Richard K. Albert
ISBN-10 9780323070942
Release 2008-04-16
Pages 1032
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This comprehensive clinical textbook examines all aspects of respiratory medicine. The editors take a practical approach to the diagnosis and management of patients with the full range of pulmonary disorders, making this your ideal source for reference in clinical practice. Fully revised, this essential volume includes new chapters on PET imaging, implications of genetic research, oxygen therapy, and rehabilitation. Now an Expert Consult title, it comes with access to the complete contents of the book online, including all of the book’s images, downloadable for use in presentations. Provides complete clinical coverage so you can Better manage and treat patients with pulmonary disease. Uses templated, clinical chapters for consistent, concise, essential information. Includes coverage that reflects the way you practice medicine today with critical information relevant to everyday practice. Utilizes diagnostic algorithms to help you find critical information and at a glance. Includes new chapters on PET imaging, implications of genetic research, oxygen therapy, and rehabilitation to keep you up to date. Includes access to the complete contents of the book online, including all of the book’s images, downloadable for use in presentations.