Harper s Practical Genetic Counselling Eighth Edition

Harper s Practical Genetic Counselling  Eighth Edition Author Angus Clarke
ISBN-10 9781444154320
Year 2016-06-15
Pages 448
Language en
Publisher CRC Press

Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet '...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal Medicine Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders. Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis. Key features: - Fully updated to provide the very latest information when in a busy consulting room or clinic - Clear and authoritative advice applicable to everyday clinical practice - Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technology The eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.

Practical Genetic Counselling

Practical Genetic Counselling Author Peter S. Harper
ISBN-10 9781483183664
Year 2013-10-22
Pages 316
Language en
Publisher Elsevier

Practical Genetic Counselling, Third Edition presents the progress in the field of medical genetics. This book covers the broad area of congenital malformation syndromes and dysmorphology. Organized into three parts encompassing 26 chapters, this edition begins with an overview of the main steps in the process of genetic counselling. This text then examines how a Mendelian inheritance may be established by a combination of clinical diagnosis. Other chapters consider the risks in specific groups of chromosomal disorders. This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. The final chapter deals with how genetic counselling is contributing to reducing the general burden of genetic disease in the population. This book is a valuable resource for geneticists, neurologists, clinicians, pediatricians, and obstetricians. Readers who are interested to know about genetic disorders will also find this book useful.

Practical Genetic Counselling

Practical Genetic Counselling Author Peter S. Harper
ISBN-10 UOM:39015007151031
Year 1984
Pages 326
Language en
Publisher Butterworth-Heinemann

The counselling of those at risk from inherited disorders forms an integral and expanding part of medicine, and advances are continually being made in this area of practice. Increasingly, common disorders are known to have a genetic component, and this book provides invaluable up-to-dateguidance through the profusion of new information, and the associated psychosocial and ethical considerations and concerns. Changes for the sixth edition include full coverage of the implications of the human genome project for clinical genetic practice, the expanding societal implications of humangenetics, and increased coverage of genetics and common diseases, including cancer genetics. The layout of the book has been much improved and modernized, with line illustrations redrawn throughout.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling Author R.J. MKinlay Gardner
ISBN-10 9780195375336
Year 2011-11-11
Pages 634
Language en
Publisher OUP USA

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

High Altitude Medicine and Physiology

High Altitude Medicine and Physiology Author Michael Ward
ISBN-10 0340759801
Year 2000
Pages 434
Language en
Publisher Hodder Arnold

Millions of people live at high altitude and large numbers visit it for both recreational and work-related reasons. The diminished oxygen in the air causes a range of illnesses and various types of impairment of performance. This book sets out the physiological basis of these changes and discusses all aspects of high-altitude illnesses and their management.

New Clinical Genetics

New Clinical Genetics Author Andrew P. Read
ISBN-10 1904842801
Year 2011
Pages 442
Language en
Publisher Scion Pub Limited

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.

Fools Crow

Fools Crow Author James Welch
ISBN-10 1440673063
Year 1987-11-03
Pages 400
Language en
Publisher Penguin

The 25th-anniversary edition of "a novel that in the sweep and inevitability of its events...is a major contribution to Native American literature." (Wallace Stegner) In the Two Medicine Territory of Montana, the Lone Eaters, a small band of Blackfeet Indians, are living their immemorial life. The men hunt and mount the occasional horse-taking raid or war party against the enemy Crow. The women tan the hides, sew the beadwork, and raise the children. But the year is 1870, and the whites are moving into their land. Fools Crow, a young warrior and medicine man, has seen the future and knows that the newcomers will punish resistance with swift retribution. First published to broad acclaim in 1986, Fools Crow is James Welch's stunningly evocative portrait of his people's bygone way of life. For more than seventy years, Penguin has been the leading publisher of classic literature in the English-speaking world. With more than 1,700 titles, Penguin Classics represents a global bookshelf of the best works throughout history and across genres and disciplines. Readers trust the series to provide authoritative texts enhanced by introductions and notes by distinguished scholars and contemporary authors, as well as up-to-date translations by award-winning translators. From the Trade Paperback edition.

Chromosomal Variation in Man

Chromosomal Variation in Man Author Digamber S. Borgaonkar
ISBN-10 0471243329
Year 1997-01-01
Pages 1175
Language en
Publisher John Wiley & Sons Incorporated

CHROMOSOMAL VARIATION IN MAN A Catalog of Chromosomal Variants and Anomalies Eighth Edition Digamber S. Borgaonkar, PhD, Cytogenetics Laboratory Department of Pathology and Laboratory Medicine From the reviews of previous editions: "This tried and trusted friend remains an invaluable compilation of published work in the field of human chromosome abnormalities, providing to all who work in this area an unequaled source of information." —The Genetical Society of Great Britain. "An unrivaled reference source." —Journal of Medical Genetics. "Invaluable to anyone working in clinical cytogenetics whether in a research environment or busy diagnostic laboratory." —British Medical Journal. "The definitive and authoritative reference book of chromosome variation in man . . . [a] superb collection . . . no cytogeneticist can be without a Borgaonkar[!]." —Genetical Research. "An extensive, rich catalog of human chromosome variants and anomalies." —Canadian Genetics Society Bulletin. "All who work with chromosomes will be very much in Dr. Borgaonkar's debt." —Biology and Society. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies, Eighth Edition provides an unparalleled means of reviewing the world literature on all common and rare chromosomal alterations and abnormalities. Organized for easy access, coverage is divided into the three main subject areas: variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. The Catalog documents information on the availability of mutant cell lines and presents chromosome alterations with a list that cross-references band numbers. This updated and expanded edition contains nearly 19,000 entries—3,000 more than the previous edition—including new or expanded coverage of structural anomalies, new banding techniques, spectral karyotyping of chromosomes, FISH, UPD, and PRINS. CHROMOSOMAL VARIATION IN MAN On-Line. An online version of Chromosomal Variation in Man is also available to the public at www.wiley.com/borgaonkar. Chromosomal Variation in Man, Eighth Edition and Chromosomal Variation in Man On-Line are indispensable resources for human and medical geneticists and cytogeneticists, cytogenetic laboratory technicians, and others interested in human chromosome abnormalities.

A Guide to Genetic Counseling

A Guide to Genetic Counseling Author Wendy R. Uhlmann
ISBN-10 9781118210536
Year 2011-09-20
Pages 648
Language en
Publisher John Wiley & Sons

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Genetic Disorders Among Arab Populations

Genetic Disorders Among Arab Populations Author Ahmad S. Teebi
ISBN-10 0195093054
Year 1997
Pages 499
Language en
Publisher Oxford University Press, USA

Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.

Counseling About Cancer

Counseling About Cancer Author Katherine A. Schneider
ISBN-10 9781118119914
Year 2011-10-26
Pages 496
Language en
Publisher John Wiley & Sons

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.

History of Human Genetics

History of Human Genetics Author Heike I. Petermann
ISBN-10 9783319517834
Year 2017-06-08
Pages 576
Language en
Publisher Springer

Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

Genetic Privacy

Genetic Privacy Author Graeme Laurie
ISBN-10 1139431536
Year 2002-05-16
Language en
Publisher Cambridge University Press

The phenomenon of the New Genetics raises complex social problems, particularly those of privacy. This book offers ethical and legal perspectives on the questions of a right to know and not to know genetic information from the standpoint of individuals, their relatives, employers, insurers and the state. Graeme Laurie provides a unique definition of privacy, including a concept of property rights in the person, and argues for stronger legal protection of privacy in the shadow of developments in human genetics. He challenges the role and the limits of established principles in medical law and ethics, including respect for patient autonomy and confidentiality. This book will interest lawyers, philosophers and doctors concerned both with genetic information and issues of privacy; it will also interest genetic counsellors, researchers, and policy makers worldwide for its practical stance on dilemmas in modern genetic medicine.

Communicating Risks and Benefits

Communicating Risks and Benefits Author Baruch Fischhoff
ISBN-10 0160901790
Year 2012-03-08
Pages 240
Language en
Publisher Government Printing Office

Effective risk communication is essential to the well-being of any organization and those people who depend on it. Ineffective communication can cost lives, money and reputations. Communicating Risks and Benefits: An Evidence-Based User’s Guide provides the scientific foundations for effective communications. The book authoritatively summarizes the relevant research, draws out its implications for communication design, and provides practical ways to evaluate and improve communications for any decision involving risks and benefits. Topics include the communication of quantitative information and warnings, the roles of emotion and the news media, the effects of age and literacy, and tests of how well communications meet the organization’s goals. The guide will help users in any organization, with any budget, to make the science of their communications as sound as the science that they are communicating.