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Генетика

Harold Chen - Atlas of Genetic Diagnosis and Counseling (2nd edition)
Published: 2012-02-17 | ISBN: 1461410363 | 2284 pages

Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.

Felissa R. Lashley
"Essentials of Clinical Genetics in Nursing Practice"
Springer Publishing Co Inc | 2007 | ISBN: 0826102220 | 352 pages

It is no longer possible to practice as a nurse or be a nursing student without encountering some basic genetics. Genetic factors can cause disease or affect an individual’s susceptibility and resistance to disease 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. Felissa Lashley has created this guide specifically for nurses, both those who did not have the benefit of a genetic education and students currently encountering genetics in their learning. In a quick, succinct introduction, it covers the basics of the science, from molecular concepts in biology to types of genetic disorders and the prevention, testing, and treatment of genetic disease. From there Dr. Lashley takes a look at the major nursing tracks: pharmacology, histories and physical assessments, obstetrics, pediatrics, surgical nursing, psychiatry, and public health. Each chapter examines how genetics informs treatment, management, and practice and each is intended to further the development of a nurses’ "genetic eye" in their critical, daily care of patients.

Edward Willett - Genetics Demystified
Published: 2005-09-27 | ISBN: 0071459308 | 210 pages

LEARN THE ABC'S OF DNA (AND HEREDITY)
Now anyone with an interest in genetics can master it -- without med school classes, Nobel Prize intelligence, or unlimited time.
In Genetics Demystified, award-winning science writer Edward Willett provides an effective and painless way to learn or review genetics, from Mendel's first experiments with pea plants through today's controversies over cloning.
With Genetics Demystified, you master the subject one step at a time -- at your own speed. This unique self-teaching guide breaks genetics into manageable, interesting segments, and provides a quiz at the end of each chapter to reinforce learning and pinpoint weaknesses. An 80-question final exam reviews the entire book.
A fast, entertaining route to learning a complex subject, this reader-friendly guide helps you:
Unravel the mysteries of DNA, RNA, and the Human Genome Project
Learn how traits pass from one generation to the next
Find out how DNA is used to track evolution and solve historical and current mysteries
Discover how genetic engineering may cure and prevent disease and make better crops -- and what the risks may be
Find the link between cancer and the genetic code
See how viruses "hijack heredity"
Take a final exam and grade it yourself!
A quick, effective way to learn genetics, Genetics Demystified is the perfect shortcut to a deeper understanding of one of the most fascinating fields of our times.

Robin L. Bennett
"The Practical Guide to the Genetic Family History"
Wiley-Blackwell | 2010 | ISBN: 0470040726 | 355 pages

Helps you develop and assess pedigrees to make diagnoses, evaluate risk, and counsel patients

The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients.

Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including:

•Value and utility of a thorough medical-family history

•Directed questions to ask when developing a medical-family history for specific disease conditions

•Use of pedigrees to identify individuals with an increased susceptibility to cancer

•Verification of family medical information

•Special considerations when adoptions or gamete donors are involved

•Ethical issues that may arise in recording a pedigree

Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved.

This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

Christian Patrick Schaaf
"Human Genetics: From Molecules to Medicine" 
ISBN: 1608316718 | 2011 | 397 pages |

This core genetics text supports medical students in their first or second year. Unique in its approach, Human Genetics teaches concepts by exploring disease entities within the context of the organ system in which they most frequently present. Coverage of the patient and family's point of view helps students understand and anticipate the major obstacles for those living with severe genetic conditions. Top 30 genetic conditions are profiled in a special section.

"An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases"

Jack J. Pasternak
Second Edition
Jоhn Wilеу | 2005 | ISBN: 0471474266 9780471474265 | 659 pages

This book precedes completion of the human genome sequence, which is now essential for initiating studies of the molecular basis of human genetic disorders. In this edition of the book, there are new chapters on complex genetic disorders, human population genetics, genomic imprinting, bioinformatics including proteomics, and clinical genetics.

Patrizia Ferretti
"Embryos, Genes and Birth Defects"
ISBN: 0470090103 | edition 2006 | 562 pages

The book presents key topics in developmental biology and explains how they provide the foundations for understanding clinical birth defects. The first six chapters introduce concepts and strategies adopted to elucidate developmental anomalies leading to birth defects. The book then focuses on specific organs and reviews the cellular and molecular mechanisms affecting their development and how disruption of these mechanisms by genetic or environmental factors may underlie certain birth defects.

Emery's Elements of Medical Genetics: With Student CONSULT Online Access
English | 13 edition | July 9, 2007 | ISBN-10: 0702029173 | 436 pages

Succinct, straightforward, well-illustrated coverage

Michael R. Speicher, Stylianos E. Antonarakis, Arno G. Motulsky

"Vogel and Motulsky's Human Genetics: Problems and Approaches (4th Edition)"
English | ISBN: 3540376534 | edition 2010 | 981 pages |

The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new data and insights have emerged for understanding the genetic and genomic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. While the chapters of this edition are written by multiple experts, the general spirit of this book highlighting problems, approaches, and history continues.

The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition, a multi-chapter section giving an overview on comparative genetics and the main model organisms useful for human genetics (mouse, dog, worm, fly, fish) has been introduced.

This book is of interest to all human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this exciting and fascinating field.

D. Hunter Best, Jeffrey J. Swensen
Molecular Genetics and Personalized Medicine
Published: 2012-01-04 | ISBN: 1617795291 | 253 pages

Genetic testing has become commonplace, and clinicians are frequently able to use knowledge of an individual’s specific genetic differences to guide their course of action. Molecular Genetics and Personalized Medicine highlights developments that have been made in the field of molecular genetics and how they have been applied clinically. It will serve as a useful reference for physicians hoping to better understand the role of molecular medicine in clinical practice. In addition, it should also prove to be an invaluable resource for the basic scientist that wants to better understand how advances in the laboratory are being moved from the bench to the bedside. All chapters are written by experts in their fields and include the most up to date medical information. The authors simplify complex genetic concepts and focus on practical patient related issues. The book will be of great value to pathologists, hematologists/oncologists, clinical geneticists, high-risk obstetricians, general practitioners, and physicians in all other medical specialties who utilize genetic testing to direct therapy.

Peter S. Harper
"A Short History of Medical Genetics"
English | ISBN: 0195187504 | 2008 | 576 pages

 An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.

Atlas of Genetic Diagnosis and Counseling by Harold Chen
Publisher: Humana Press; 1 edition (October 7, 2005) | ISBN: 1588296814 | Pages: 1088

The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients.

Stacey Blachford
The Gale Encyclopedia of Genetic Disorders (2 Volume Set)
Published: 2001-12-15 | ISBN: 0787656127 | 1200 pages

Presents nearly 400 articles describing genetic disorders, conditions, tests, and treatments, including high-profile diseases such as Alzheimer's, breast cancer, and heart disease.
Readable, well organized, and easy to use, this outstanding encyclopedia signifies a timely and major advance in providing in-depth and comprehensive coverage of medical genetics for the lay reader. The two volumes include nearly 400 substantive entries on genetic diseases and conditions as well as information on basic genetics concepts such as DNA, chromosomes, genetic testing, and pedigree analysis and construction (genetic family history). An advisory board of seven distinguished genetics specialists (clinical geneticists and genetic counselors) oversaw the accuracy of the text, which is authored by an international slate of clinicians, genetic counselors, and medical writers. Each of the alphabetically arranged entries follows a standard format definition, description, genetic profile, demographics, and signs and symptoms designed to answer the questions healthcare consumers actually ask. In addition, entries provide citations for further reading, contact information for support and advocacy organizations, and recommendations for notable web sites. Cross references for subjects without entries are interspersed throughout the work and are easy to follow. The key terms box that appears in select entries and provides succinct and understandable definitions is especially noteworthy. Other special features include a comprehensive glossary, a chromosome map, a guide to symbols for pedigree charts, and an organizations directory all features that should make understanding difficult genetics concepts much easier. The Encyclopedia of Genetic Disorders and Birth Defects (Facts On File, 2000. 2d ed.) has long been the authoritative title for this subject and should remain on the shelf. However, larger consumer health collections and those that frequently receive requests for consumer information on clinical genetics are advised to purchase this as a supplement; it is worth every penny. Highly recommended.

Harold Chen
"Atlas of Genetic Diagnosis and Counseling, 2nd edition"
2012 | ISBN-10: 1461410363 | 2284 pages

 Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.

Mohnish Suri, Ian Young, Eli Hatchwell
Genetics for Pediatricians
Published: 2005-02 | ISBN: 1901346633 | 250 pages

Genetic testing now plays an important role in the investigation of almost every child who is presented with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. This book restricts coverage to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.

James M. Parry, Elizabeth M. Parry - Genetic Toxicology: Principles and Methods
Published: 2011-12-07 | ISBN: 1617794201 | 449 pages 

The evaluation of potential mutagenic activity is a critical step in the assessment of the safety of both new and pre-existing chemical types. In Genetic Toxicology: Principles and Methods, expert contributors help to satisfy the demand for education in this tremendously important area of study. The volume covers three basic areas: the scientific basis of the discipline, the methodologies of the main test assays, and the application of the methods, all aimed primarily at scientists in the safety departments of the industries working with both natural and synthetic chemicals. Written in the highly successful Methods in Molecular Biology™ series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Intuitive and cutting-edge, Genetic Toxicology: Principles and Methods provides crucial support to both laboratory workers in providing quality information on the appropriate application of techniques and to study directors in their assay selection and protocol design in this vital field.

Yuri B. Yurov, Svetlana G. Vorsanova, Ivan Y. Iourov - Human Interphase Chromosomes: Biomedical Aspects
Published: 2013-04-03 | ISBN: 1461465575 | 233 pages

 The beginning of interphase cytogenetics can be attributed to significant advances in human molecular genetics and cytogenetics. Owing to experimental and theoretical research at the interface between cellular and molecular levels of chromosomal organization and function, high-resolution techniques for chromosomal analysis (molecular cytogenetic techniques) have become available. Molecular cytogenetics is a branch of biomedical sciences that explores chromosomes at molecular and single-cell resolutions at all stages of the cell cycle. It also comprises the techniques that operate with either the entire genome or specific DNA sequences to analyze genomic structural and functional variations at chromosomal level. In postgenomic era, molecular cytogenetics has appreciably transformed and has given rise to a new field of genomics, called cytogenomics. As a result, new opportunities have emerged for analysis of human interphase chromosomes in almost all cell types and states at unprecedented resolution. In Human Interphase Chromosomes, the editors have provided an overview of current developments in the study of human interphase chromosomes with a special attention to available molecular cytogenetictechnologies for basic and clinical chromosome research.

Exercise Genomics (Molecular and Translational Medicine) by Linda S. Pescatello and Stephen M. Roth
English | 1st Edition. (2011) | ISBN: 1607613549 | 289 pages

Exercise Genomics encompasses the translation of exercise genomics into preventive medicine by presenting a broad overview of the rapidly expanding research examining the role of genetics and genomics within the areas of exercise performance and health-related physical activity.

Leading researchers from a number of the key exercise genomics research groups around the world have been brought together to provide updates and analysis on the key discoveries of the past decade, as well as lend insights and opinion about the future of exercise genomics, especially within the contexts of translational and personalized medicine. Clinicians, researchers and health/fitness professionals will gain up-to-date background on the key findings and critical unanswered questions across several areas of exercise genomics, including performance, body composition, metabolism, and cardiovascular disease risk factors. Importantly, basic information on genomics, research methods, and statistics are presented within the context of exercise science to provide students and professionals with the foundation from which to fully engage with the more detailed chapters covering specific traits.Exercise Genomics will be of great value to health/fitness professionals and graduate students in kinesiology, public health and sports medicine desiring to learn more about the translation of exercise genomics into preventive medicine.

Harold Chen - Atlas of Genetic Diagnosis and Counseling
Published: 2005-10-07 | ISBN: 1588296814 | 1088 pages 

Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.

Charles Coutelle, Simon N. Waddington, "Prenatal Gene Therapy: Concepts, Methods, and Protocols"
English | ISBN: 161779872X | 2012 | 402 pages

 The emerging field of prenatal gene therapy is founded on scientific and technical advances in fetal medicine, molecular biology and gene therapy. This preclinical research subject aims at applying gene therapy during pregnancy for the prevention of human diseases caused by early onset congenital or gestation related conditions. In Prenatal Gene Therapy: Concepts, Methods and Protocols, expert researchers in the field detail many of the protocols which are now commonly used to study gene therapy, fetal medicine and medical ethics. These include detailed protocols for vector production, for breeding and husbandry of the animal models, for the surgical procedures of gene delivery in large and small animals and for the methods of gene transfer analysis. Written in the highly successful Methods in Molecular Biology™ series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Thorough and intuitive, Prenatal Gene Therapy: Concepts, Methods and Protocols seeks to aid scientists in the further study of prenatal disease and gene therapy projects beyond the scope of fetal medicine.
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