New Clinical Genetics

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Author: Andrew P. Read,Dian Donnai

Publisher: Scion Pub Limited

ISBN: 9781904842804

Category: Medical

Page: 442

View: 2238

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.

Preimplantation Genetic Diagnosis in Clinical Practice

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Author: Tarek El-Toukhy,Peter Braude

Publisher: Springer Science & Business Media

ISBN: 1447129482

Category: Health & Fitness

Page: 228

View: 5796

Preimplantation genetic diagnosis (PGD) is a rapidly advancing field of reproductive genetics. With the significant improvements achieved over the last few years in the understanding of many genetic diseases and in the techniques of molecular genetic testing, new genetic diseases are being added to the list of conditions amenable to PGD almost on a weekly basis. Therefore, the subject of PGD is becoming relevant to a much wider variety of medical disciplines and an increasing number of patients who may wish to know more about this treatment option. This unique book offers a comprehensive yet practical “user-friendly” guide to preimplantation genetic diagnosis (PGD). It provides understanding of and insight into the complete procedure, its recent clinical and laboratory developments and its future prospects, whilst offering an easy point of reference for patient enquiries. Concluding with perspectives on the ethical and social issues often encountered by healthcare professionals counselling patients with regards to PGD. Each chapter within Preimplantation Genetic Diagnosis in Clinical Practice is written by established authorities in their fields. An essential resource for PGD specialists and non-specialists, and for all practitioners working within the disciplines of fertility, reproductive medicine and medical genetics.

Clinical Genetics in Nursing Practice

Third Edition

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Author: Felissa R. Lashley

Publisher: Springer Publishing Company

ISBN: 9780826123664

Category: Health & Fitness

Page: 571

View: 6546

Print+CourseSmart

Clinical Genetics

Problems in Diagnosis and Counseling

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Author: Ann M. Willey,Thomas P. Carter,Sally Kelly

Publisher: Academic Press

ISBN: 1483282082

Category: Health & Fitness

Page: 290

View: 2189

Clinical Genetics: Problems in Diagnosis and Counseling presents the proceedings of the Twelfth Annual New York State Health Department Birth Defects Symposium. The book provides practical information applicable to counseling situations for selected diagnoses and a summary of the limitations of diagnosis and counseling for genetic disorders. The text contains chapters devoted to the description of restriction enzyme site detection and prenatal diagnosis of hemoglobinopathy; counseling for mental retardation of unknown etiology, for idiopathic dysmorphic syndromes, and for psychiatric disorders; interpretation of prenatal cytogenetic diagnosis; preconceptual vitamin supplementation; and cystic fibrosis. Geneticists, clinicians, and physicians will find the book insightful.

Molecular Pathology in Clinical Practice

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Author: Debra G.B. Leonard

Publisher: Springer Science & Business Media

ISBN: 0387332278

Category: Medical

Page: 600

View: 5794

This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.

Oxford Desk Reference: Clinical Genetics and Genomics

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Author: Helen V. Firth,Jane A. Hurst

Publisher: Oxford University Press

ISBN: 0199557500

Category: Genetic disorders

Page: 877

View: 5892

Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Essentials of Clinical Genetics in Nursing Practice

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Author: Felissa R. Lashley, RN, PhD, ACRN, FAAN, FACMG

Publisher: Springer Publishing Company

ISBN: 9780826103482

Category: Medical

Page: 352

View: 9307

Named a 2013 Doody's Core Title! REFRESH YOUR GENETIC KNOWLEDGE AND ENHANCE YOUR PATIENT CARE We now know that genetic factors can cause disease or affect an individual's susceptibility or resistance to disorders and even to treatment. To provide the best nursing care, it is therefore essential that practitioners and students have a basic knowledge of the science of genetics and how it affects the major areas of nursing expertise. To address this need, Dr. Felissa Lashley has created this "essentials" guide specifically for nurses. From genetic factors and trends affecting health care today, to the more complex discussions of human variation, every genetic topic critical to the practice of nursing and nursing education is covered, including: Prevention of Genetic Disease Genetic Testing and Treatment Genetic Counseling Maternal-Child Nursing Psychiatric/Mental Health Nursing Community/Public Health Nursing Trends, Policies, and Social and Ethical Issues Each chapter examines how genetic information influences treatment and management and is intended to further the development of a nurse's "genetic eye" in the daily care of patients.

New Genetics, New Identities

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Author: Paul Atkinson,Peter Glasner,Helen Greenslade

Publisher: Routledge

ISBN: 1134161182

Category: Medical

Page: 12

View: 7355

What implications are applications of new genetic technologies in biomedicine having on social identity in today’s society? New Genetics, New Identities, a wide-ranging multi-disciplinary volume in the CESAGen Genetics & Society Book series, presents not only theoretical reflection but also empirical case studies drawn from an international array of authors. Including the highly controversial areas of reproductive technologies and use of human embryos in biomedical research, other key features include: a fresh analysis of a wide-range of social and political concerns in the development of new social identities examinations of the social implications of identity formation as a result from advances in genetic technologies from a number of perspectives both locally and globally resources of a wide range of social science disciplines to discuss significant sociological, anthropological, political and ethical issues. This superb collection is an essential informative read for postgraduates and academics in the fields of sociology, anthropology and scientific technologies giving a comparative approach to complex issues surrounding the social implications of these advances in a period of rapid social change.

Illustrated Textbook of Paediatrics E-Book

With STUDENT CONSULT Online Access

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Author: Tom Lissauer,Graham Clayden

Publisher: Elsevier Health Sciences

ISBN: 0723437092

Category: Medical

Page: 552

View: 423

Winner of the 2012 British Medical Association book awards' first prize in the paediatrics category! This is the fourth edition of a highly popular 'must have textbook for paediatrics for medical students'. The previous edition has been translated into eight languages and also won British Medical Association and Royal Society of Medicine prizes for the best paediatrics textbook. Case studies throughout Online access through StudentConsult Concise, synoptic, clinically-focused Highly accessible colour-coded layout Comprehensive and authoritative New section on child protection New section on global paediatrics Over fifty new images Thoroughly revised and updated throughout

Clinical Genetics Services Into the 21st Century

A Report from the Clinical Genetics Committee of the Royal College of Physicians

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Author: Peter S. Harper

Publisher: Royal College of Physicians

ISBN: 186016031X

Category: Genetic counseling

Page: 24

View: 5293