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Med-books.by - Библиотека медицинской литературы » Генетика

Lashley's Essentials of Clinical Genetics in Nursing Practice - Kasper C.E., Schneidereith T.A., Lashley F.R. - 2016 год



Lashley's Essentials of Clinical Genetics in Nursing Practice - Kasper C.E., Schneidereith T.A., Lashley F.R. - 2016 год

Completely updated to help nurses learn to think genetically Today's nurses must be able to think genetically to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics.

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Atlas of preimplantation genetic diagnosis - Kuliev A., Rechitsky S., Verlinsky O. - 2014 год



Atlas of preimplantation genetic diagnosis - Kuliev A., Rechitsky S., Verlinsky O. - 2014 год

Based on one leading center’s experience with over 100,000 cases, the new edition of this extensively illustrated atlas provides a detailed manual for procedures and techniques in preimplantation genetic diagnosis. New topics in this edition include de novo mutations, diseases with genetic predisposition, and HLA typing. The book provides insight from authors who are pioneers in some of the procedures described.

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Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients - Liehr T. - 2014 год



Uniparental Disomy (UPD) in Clinical Genetics: A Guide for Clinicians and Patients - Liehr T. - 2014 год

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.
Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

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Genetic Counseling Research: A Practical Guide - MacFarlane I.M., McCarthy Veach P., LeRoy B.S. - 2014 год



Genetic Counseling Research: A Practical Guide - MacFarlane I.M., McCarthy Veach P., LeRoy B.S. - 2014 год

The book is an online resource devoted to research methodology in genetic counseling. It offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples and practical tips guide readers through the research and publication processes. With a highly accessible, pedagogical approach, this resource will help promote quality research by genetic counselors and research supervisors—and in turn, increase the knowledge base for genetic counseling practice, other aspects of genetic counseling service delivery, and professional education.

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Limb Malformations: An Atlas of Genetic Disorders of Limb Development - Mundlos S., Horn D. - 2014 год



Limb Malformations: An Atlas of Genetic Disorders of Limb Development - Mundlos S., Horn D. - 2014 год

One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions.
The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on “Synonyms”, “Major clinical findings”, “Genetic transmission”, “Differential diagnosis”, “Molecular Pathology”, and references to Mendelian Inheritance in Man (OMIM).
The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs.

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Research Advances in Genetics and Genomics: Implications for Psychiatry - Andreasen N.C. - 2005 год



Research Advances in Genetics and Genomics: Implications for Psychiatry - Andreasen N.C. - 2005 год

Research Advances in Genetics and Genomics: Implications for Psychiatry introduces mental health professionals to exciting breakthroughs in endophenotypes, animal models, microarrays, and genetic mapping, as well as general strategies for identifying the genetic mechanisms of mental illnesses.
Uniquely valuable both as summary and signpost, this concise volume provides a fascinating overview of recent cutting-edge developments in the application of molecular genetics, genomics, and proteomics to the study of psychiatric populations.

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Tay-Sachs Disease - Desnick R.J., Kaback M.M. - 2001 год



Tay-Sachs Disease - Desnick R.J., Kaback M.M. - 2001 год

Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs.
A test to determine whether an infant is carrying the Tay-Sachs disease was introduced in 1969. However, work continues to be done to help find a cure. Because there is no cure for this deadly disease, genetic research is essential.
Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.

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Preimplantation Genetic Diagnosis in Clinical Practice - El-Toukhy T., Braude P. - 2014 год



Preimplantation Genetic Diagnosis in Clinical Practice - El-Toukhy T., Braude P. - 2014 год

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.

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The Genetics of Obesity - Grant S. - 2014 год



The Genetics of Obesity - Grant S. - 2014 год

In the past four years, many genetic loci have been implicated for BMI from the outcomes of genome-wide association studies (GWAS), primarily in adults. Insulin-induced gene 2 (INSIG2) was the first locus to be reported by this method to have a role in obesity but replication attempts have yielded inconsistent outcomes. The identification of the second locus, the fat mass- and obesity-associated gene (FTO), h has been more robustly observed by others. Studies from both FTO knock out and FTO overexpression mouse model support the fact that FTO is directly involved in the regulation of energy intake and metabolism in mice, where the lack of FTO expression leads to leanness while enhanced expression of FTO leads to obesity. Along with numerous other studies, a number of genetic variants have been established robustly in the context of obesity, giving us fresh insights into the pathogenesis of the disease. This book will give a comprehensive overview of efforts aimed at uncovering genetic variants associated with obesity, which have been particularly successful in the past 5 years with the advent of genome-wide association studies (GWAS). This book will cover this state of the art technology and its application to obesity in great detail. Topics covered will include genetics of childhood obesity, genetics of syndromic obesity, copy number variants and extreme obesity, co-morbidities of obesity genetics, and functional follow-up of genetic variants.​

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Gene Therapy - Kelly E.B. - 2007 год



Gene Therapy - Kelly E.B. - 2007 год

Every day, newspapers and television news programs present stories on the latest controversies over healthcare and medical advances, but they do not have the space to provide detailed background on the issues. Websites and weblogs provide information from activists and partisans intent on presenting their side of a story. But where can students - or even ordinary citizens - go to obtain unbiased, detailed background on the medical issues affecting their daily lives? This volume in the Health and Medical Issues Today series provides readers and researchers a balanced, in-depth introduction to the medical, scientific, legal, and cultural issues surrounding gene therapy and its import in today's world of healthcare.
Gene Therapy is organized to provide researchers with easy access to the information they need. Section 1 provides overview chapters on the background information needed to intelligently understand the issues and controversies surrounding gene therapy, such as the history of theories of the gene and recent developments in clinical trials. Section 2 offers capsule examinations of the contemporary issues and debates that provoke the most heated disagreements and misunderstandings, such as whether or not humans should tinker with genetic material and who pays for genetic therapies. Section 3 includes reference material on stem cells, including primary source documents from important players in the struggle over gene therapy, a timeline of important events, and an annotated bibliography of useful print and electronic resources. This volume in the Health and Medical Issues Today series provides everything a student requires to understand the issues involved in gene therapy and provides a springboard for further research into the issue.

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