New Clinical Genetics

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New Clinical Genetics

New Clinical Genetics

  • Author: Andrew P. Read,Dian Donnai
  • Publisher: Scion Pub Limited
  • ISBN: 9781904842804
  • Category: Medical
  • Page: 442
  • View: 5779
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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.

Preimplantation Genetic Diagnosis in Clinical Practice

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Preimplantation Genetic Diagnosis in Clinical Practice

Preimplantation Genetic Diagnosis in Clinical Practice

  • Author: Tarek El-Toukhy,Peter Braude
  • Publisher: Springer Science & Business Media
  • ISBN: 1447129482
  • Category: Health & Fitness
  • Page: 228
  • View: 1351
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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

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Clinical Genetics in Nursing Practice

Clinical Genetics in Nursing Practice

Third Edition

  • Author: Felissa R. Lashley, PhD, RN, FABMGG
  • Publisher: Springer Publishing Company
  • ISBN: 9780826123671
  • Category: Medical
  • Page: 584
  • View: 1864
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Designated a Doody's Core Title! The third edition of this award-winning text provides new and updated knowledge about genetics issues relevant to nursing practice. Read in sequence or used as a reference, this is a comprehensive overview of how genetics affetcs the care that nurses provide. In addition to a summary of basic human genetics and discussion of the Human Genome Project, this new edition includes the latest research findings and implications about inheritance, major genetic disorders (cytogenetics or chromosomal, inherited biochemical, and congenital anomalies), and genetics in twin studies. A consideration of the ethical impact of genetics on society and future generations, as well as information on assisted reproduction round out the overview. Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics.

Clinical Genetics

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Clinical Genetics

Clinical Genetics

Problems in Diagnosis and Counseling

  • Author: Ann M. Willey,Thomas P. Carter,Sally Kelly
  • Publisher: Academic Press
  • ISBN: 1483282082
  • Category: Health & Fitness
  • Page: 290
  • View: 9844
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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.

Oxford Desk Reference: Clinical Genetics and Genomics

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Oxford Desk Reference: Clinical Genetics and Genomics

Oxford Desk Reference: Clinical Genetics and Genomics

  • Author: Helen V. Firth,Jane A. Hurst
  • Publisher: Oxford University Press
  • ISBN: 0199557500
  • Category: Genetic disorders
  • Page: 877
  • View: 5175
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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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Essentials of Clinical Genetics in Nursing Practice

Essentials of Clinical Genetics in Nursing Practice

  • Author: Felissa R. Lashley, RN, PhD, ACRN, FAAN, FACMG
  • Publisher: Springer Publishing Company
  • ISBN: 9780826103482
  • Category: Medical
  • Page: 352
  • View: 4599
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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.

Illustrated Textbook of Paediatrics E-Book

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Illustrated Textbook of Paediatrics E-Book

Illustrated Textbook of Paediatrics E-Book

With STUDENT CONSULT Online Access

  • Author: Tom Lissauer,Graham Clayden
  • Publisher: Elsevier Health Sciences
  • ISBN: 0723437092
  • Category: Medical
  • Page: 552
  • View: 5564
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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

New Genetics, New Identities

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New Genetics, New Identities

New Genetics, New Identities

  • Author: Paul Atkinson,Peter Glasner,Helen Greenslade
  • Publisher: Routledge
  • ISBN: 1134161182
  • Category: Medical
  • Page: 12
  • View: 5067
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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.

Clinical Genetics Services Into the 21st Century

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Clinical Genetics Services Into the 21st Century

Clinical Genetics Services Into the 21st Century

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

  • Author: Peter S. Harper
  • Publisher: Royal College of Physicians
  • ISBN: 186016031X
  • Category: Genetic counseling
  • Page: 24
  • View: 8422
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Genetics for Health Professionals in Cancer Care

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Genetics for Health Professionals in Cancer Care

Genetics for Health Professionals in Cancer Care

From Principles to Practice

  • Author: Chris Jacobs,Lorraine Robinson,Patricia Webb
  • Publisher: OUP Oxford
  • ISBN: 0191653497
  • Category: Medical
  • Page: 384
  • View: 2348
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The role of genetics is becoming increasingly important in all aspects of healthcare and particularly in the field of cancer care. Genetics for Health Professionals in Cancer Care: From Principles to Practice equips health professionals with the knowledge and skills required for all aspects of managing cancer family history. This includes taking an accurate cancer family history and drawing a family tree; understanding cancer biology, basic cancer genetics and the genes involved in hereditary breast, ovarian, prostate, colorectal, gastric and related gynaecological cancers and rare cancer predisposing syndromes; assessing cancer risk and communicating risk information; early detection and risk reducing measures available for those at increased risk and managing individuals with hereditary cancer. Drawing on experiences of health professionals, Genetics for Health Professionals in Cancer Care discusses the challenges raised and provides practical advice and insight into what happens when a patient is referred for genetic counselling and genetic testing, including the psychological, social and ethical issues faced by individuals and families with and at risk of hereditary cancer. The book also provides practical guidance on setting up a cancer family history clinic in primary and secondary care. Genetics for Health Professionals in Cancer Care is essential reading for healthcare professionals working with cancer patients and their families, and is an ideal reference text for non-specialists working in cancer genetics.