Genetic Diagnoses
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Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2011-09-07
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-07 with Medical categories.
Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.
Genetic Diagnoses
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Author : Radha Jonnalagedda Sarma
language : en
Publisher: Nova Biomedical Books
Release Date : 2012-02-24
Genetic Diagnoses written by Radha Jonnalagedda Sarma and has been published by Nova Biomedical Books this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-02-24 with Biochemistry categories.
This book presents current research from across the globe in the study of genetic diagnoses. Topics discussed include the genetic risk factors between thyroid function and preeclampsia; the molecular diagnosis of thalessemia and spinocerebelar ataxias; the genetics of left ventricular noncompaction; the genetic diagnosis to type 1 diabetes and the genetics of congenital heart disease
Genetic Diagnosis Of Endocrine Disorders
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Author : Roy E. Weiss
language : en
Publisher: Academic Press
Release Date : 2015-10-09
Genetic Diagnosis Of Endocrine Disorders written by Roy E. Weiss and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-10-09 with Medical categories.
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Neurogenetic Diagnoses The Power Of Hope And The Limits Of Today S Medicine
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Author : Carole H. Browner
language : en
Publisher: Routledge
Release Date : 2009-12-18
Neurogenetic Diagnoses The Power Of Hope And The Limits Of Today S Medicine written by Carole H. Browner and has been published by Routledge this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-12-18 with Medical categories.
Amid intense debate over the consequences of decoding the human genome and the impact of such technology on our lives, these lucid, richly-textured, jargon-free case studies explore the diverse meanings and impacts of genetic diagnoses for patients enduring currently incurable, ultimately fatal neurodegenerative diseases -- and for their family caregivers and clinicians.
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2015-09-21
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-21 with Medical categories.
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
Preimplantation Genetic Diagnosis
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Author : Joyce C. Harper
language : en
Publisher: John Wiley & Sons
Release Date : 2003-01-17
Preimplantation Genetic Diagnosis written by Joyce C. Harper and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-01-17 with Medical categories.
Preimplantation Genetic Diagnosis (PGD) is the detection and screening of genetic abnormality in gametes prior to fertilisation and embryos fertilised in vitro prior to implantation. This exciting new text provides an introduction and overview of the principles of PGD. An exciting fusion of prenatal diagnosis (PD) with in vitro fertilisation (IVF), this book is will appeal to both the prenatal diagnosis community, of clinical geneticists and foetal medicine specialists within obstetrics and gynaecology, and the IVF community within reproductive medicine. It is also an essential introduction to PD, clinical genetics and IVF for non-specialists. A concise introduction to the field of PGD Detailed explanations of the techniques and procedures used The law and ethical implications of PGD Future uses of PGD
Diagnostic Techniques In Genetics
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Author : Jean-Louis Serre
language : en
Publisher: John Wiley & Sons
Release Date : 2007-01-11
Diagnostic Techniques In Genetics written by Jean-Louis Serre and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-01-11 with Science categories.
Recent developments within molecular biology and genetic engineering have led to huge advances and changes within the biological sciences especially within the field of human genetics. Diagnostic Techniques in Genetics offers an important overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses. The first part of the book focuses on DNA/RNA applications and includes many of the latest developments in the field combined with routine procedures of genetic diagnoses, for example cloning and sequencing DNA. The DNA applications presented in the first chapter are then each applied to a specific kind of genetic diagnosis and the text concludes with a chapter devoted to population genetics. First published in French by Dunod in 2002, this book is an excellent reference for students taking courses in molecular biology, medicine and medical genetics. It is also a useful introduction for postgraduate students and researchers in the field who require a general overview of genetic diagnoses.
Molecular Diagnosis Of Genetic Diseases
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Author : Rob Elles
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-02-01
Molecular Diagnosis Of Genetic Diseases written by Rob Elles and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-01 with Medical categories.
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Preimplantation Genetic Diagnosis In Clinical Practice
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Author : Tarek El-Toukhy
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-11-08
Preimplantation Genetic Diagnosis In Clinical Practice written by Tarek El-Toukhy and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-11-08 with Health & Fitness categories.
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.
Assessing Genetic Risks
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 1994-01-01
Assessing Genetic Risks written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-01-01 with Medical categories.
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.