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Med-books.by - Библиотека медицинской литературы » Материалы за 12.02.2018

Клиническая генетика - Бочков Н.П. - 2011 год - 592 с.



Клиническая генетика - Бочков Н.П. - 2011 год - 592 с.

Все главы переработаны и дополнены в связи с развитием медицинской науки и практики. Существенно дополнены главы по многофакторным заболеваниям, профилактике, лечению наследственных болезней, экологической генетике и фармакогенетике. Весь теоретический материал проиллюстрирован схемами и рисунками. В учебнике представлены новые, выявленные в последние годы закономерности направлений генетики (эпигенетика, малые РНК, однородительские дисомии, генетический полиморфизм и др.). В приложении на компакт-диске размещены дополнительные статьи о лечении наследственных болезней, мутагенезе, евгенике. Предназначен студентам медицинских вузов, обучающимся по специальностям "лечебное дело", "педиатрия", "медико-профилактическое дело" по дисциплине "медицинская генетика".

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Приложение к учебнику Клиническая генетика - Бочков Н.П. - 2011 год



Приложение к учебнику Клиническая генетика - Бочков Н.П. - 2011 год

Предназначен студентам медицинских вузов, обучающимся по специальностям "лечебное дело", "педиатрия", "медико-профилактическое дело" по дисциплине "медицинская генетика".
В приложении на компакт-диске размещены дополнительные статьи (с иллюстрациями) о диагностике, лечении и профилактике наследственных болезней, мутагенезе, евгенике.

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Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment - Milunsky A., Milunsky J.M. - 2016 год



Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment - Milunsky A., Milunsky J.M. - 2016 год

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.

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Human Genetic Diseases - Plaseska-Karanfilska D. - 2011 год



Human Genetic Diseases - Plaseska-Karanfilska D. - 2011 год

The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the genetic approach to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences.

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DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling - Vogelsang M. - 2013 год



DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling - Vogelsang M. - 2013 год

Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year. Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients.

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DNA Methylation: Development, Genetic Disease and Cancer - Doerfler Walter, Böhm Petra - 2006 год



DNA Methylation: Development, Genetic Disease and Cancer - Doerfler Walter, Böhm Petra - 2006 год

It has become apparent that the genomes of many organisms are characterized by unique patterns of DNA methylation which can differ from genome segment to genome segment and cell type to cell type. These patterns can be instrumental in determining cell type and function. Thus, it is not surprising that studies on the role of DNA methylation now occupy center stage in many fields of biology and medicine such as developmental biology, genetic imprinting, genetic disease, tumor biology, gene therapy, cloning of organisms and others. Once again, basic research in molecular biology has provided the essential foundation for investigations of biomedical problems.

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Advances in Diagnosis and Management of Glycogenosis II - Filosto Massimiliano et al. - 2012 год



Advances in Diagnosis and Management of Glycogenosis II - Filosto Massimiliano et al. - 2012 год

The literature concerning muscle Glycogenoses reflects a worldwide interest which has been greatly intensified, mainly over the last ten years. To a large extent, this renewed interest is due to recent advances in diagnosing and treating the Lysosomal disease named Glycogenosis II or Pompe disease (GSD II). The new therapeutic approaches must induce us to make a great effort in order to better diagnose, treat and follow correctly the patients with Pompe disease. This book is a comprehensive text which covers all of the aspects regarding this disease, from pathogenic to clinical and therapeutic features. (Imprint: Nova Biomedical)

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Advances in the Study of Genetic Disorders - Ikehara K. - 2011 год



Advances in the Study of Genetic Disorders - Ikehara K. - 2011 год

The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused. The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future.

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Congenital heart disease: Molecular diagnostics - Kearns-Jonker M. - 2006 год



Congenital heart disease: Molecular diagnostics - Kearns-Jonker M. - 2006 год

Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods. The protocols follow the successful Methods in Molecular Medicine™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls.
Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease.

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