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This volume examines advances in the genetics of hematologic disorders. The papers selected for this work were presented at the 6th International Clinical Genetics Seminar in Corfu, Greece in 1990. They deal with hemoglobinopathies and the thalassemias, the erythrocyte enzymopathies, and the hemophilias and blood malignancies viewed from the genetics standpoint. An invaluable resource, this book provides the opportunity for an in-depth look at genetic disorders. ... Read more

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Genetics of Hematological Disorders
This volume contains selected papers presented at the 6th International Clinical Genetics Seminar, which was held in Corfu, Greece, May 20-23, 1990. The authors look at hemoglobinopathies and thalassemias, erythrocyte enzymopathies, hemophilias, and blood malignancies from the genetic standpoint. This volume summarizes the state of the art of the genetics of hematological disorders.
--- excerpt from book's Preface ... Read more

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Second author, Fridolin Sulser, is with Vanderbilt Univ., Nashville, TN. Based on papers presented at an International Symposium, held in Castres, France in December 1999. Covers state-of-the-art experimental approaches and molecular pharmacological and clinical aspects dealing with the effect of psychotropic drugs. ... Read more

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The very rapid advances in biochemical technology recently have helped identify the basic defect in about 250 genetic disorders. Early precide diagnosis is essential before therapy can be identified which will lead to survival and normal development. This book describes clinical, pathological, and biochemical features, diagnostic methodology, and the necessary data for genetic counselling. ... Read more

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In the 1990s advances in endocrinology and metabolism have resulted from the application of the methods of molecular biology, and the object of this book is to provide a succinct, readable version of these advances, specifically for physicians who are involved in endocrinology and metabolism. In addition to providing this, the book is referenced to support the authoritative accounts which are written by people in the field. The book should be of interest to endocrinologists and clinical geneticists. ... Read more

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During the past decade enormous progress has been made in our understanding of the molecular genetic basis of many oncologic disorders, and such information is already beginning to impact on clinical practice. This book provides oncologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic oncologic disorders. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. With its quick reference format, Genetics for Oncologists will be readily appreciated by busy practitioners. ... Read more

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"The most comprehensive treatment of genetic variation and disorders in 'peoples of African origin' yet to appear. It is an encyclopedic work, broad in the scope of its mission and commendable in its achievement." -- American Journal of Human Genetics

"This volume is an excellent introduction to an interesting and important topic and is recommended for students, practitioners, and teachers in human genetics, biological anthropology, medicine, the health professions, and biology in general." -- Quarterly Review of Biology

The misuse of evidence of genetic differences among human populations to "prove" theories of white supremacy has seriously compromised studies of genetic variation among racial groups. But there is no question, argue James Bowman and Robert Murray, that genetic disorders do vary from one population to another. Emphasizing the positive value of genetic differences, Bowman and Murray offer an overview of the diverse African populations and trace their migrations both within Africa and throughout the world.

Topics include skeletal variation, pigmentation, polymorphisms, hemoglobinpathies and thalassemias, malaria, lactose intolerance, multiple births, congenital malformations, hypertension, and diabetes. The authors also explore the ethical and legal implications of genetic counseling for minority populations. Based on a careful survey and collation of the literature as well as on the authors' original research, Genetic Variation and Disorders in Peoples of African Origin provides more information on this subject than has been previously available in a single, concise volume.

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This volume covers the use of animal models for human geneticdisease, including models of developmental disorders, neuromusculardiseases, neurodegenerative diseases and learning disorders.Researchers who study these disorders will find this volume a usefulresource. ... Read more

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To stay current with their profession, speech-language, and hearing clinicians and students must have a strong working knowledge of genetic disorders and their associated symptoms.Dr. Shprintzen's comprehensive manual provides a clear, understandable overview of human genetics and the modes of inheritance directly related to communicative disorders, as well as the proper methodology taking a detailed medical, behavioral, and genetic history for diagnosis, treatment, and prognosis.TEXTBOOK ... Read more

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Mood disorders are the most common of major psychiatric illnesses. Similar rates of mood in every race, culture and geographical location have bolstered the suspicion that manic-depressive disorder has a biological and, very probably, a genetic basis. This study provides up-to-date coverage of research into genetic involvement in affective disorders, including research findings, procedures and strategies. ... Read more

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This publication provides a comprehensive and up-to-date review of the significance of cytogenetic and molecular genetic abnormalities in the chronic myeloid leukaemias and other myeloproliferative disorders. Subjects discussed include polycythaemia vera, essential thrombocythaemia, 'idiopathic' myelofibrosis and BCR-ABL-positive chronic myeloid leukaemia. The role of cytogenetic and molecular genetic analysis in monitoring residual disease in chronic myeloid leukaemia is also comprehensively covered. In addition, the less common entities of the 8p11 syndrome, systemic mastocytosis, eosinophilic leukaemia and chronic myeloid leukaemia associated with t(5;12) are reviewed in detail. With the development of drugs with a specific molecular target, molecular aspects of chronic leukaemias will become increasingly relevant to the practice of haematology, making this publication very timely. The contributing authors include leaders in the fields of haematology and cytogenetics. ... Read more

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Johns Hopkins Univ., Baltimore, MD. describing genes and/or phenotypes representing individual genes. The entries are assembled into four catalogs according to which group they relate to. Previous edition: c1994. For students, researchers, and clinicians. CD-ROM and study guide were not published simultaneously. DNLM: Genetics, Medical--bibliography. ... Read more

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Mendelian Inheritance in man
It's a very important book to consult in my work. We can consult by internet pages but it is not the same. Look for information in a book is a very different experience, when I can do it, I prefered. ... Read more

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This book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. It is structured such that the reader can identify the radiographic changes and relate them to specific disease entities. The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias. The book is intended for radiologists, clinical and medical geneticists, and pediatricians. The material is divided into two parts. The first part is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their incidence, anatomic location, diagnostic relevance, pathogenesis, and pattern of inheritance, if applicable. The second part presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning symptoms, genetics, causes, radiographic appearance, and major differential diagnosis. ... Read more

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Written for school psychologists, counselors, administrators, and teachers, this volume outlines issues affecting children who are born with or acquire a medical disorder or disease. ... Read more

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Case studies provide a fine foundation of strategies educators will appreciate
Paul C. McCabe and Steven R. Shaw's GENETIC AND ACQUIRED DISORDERS: CURRENT TOPICS AND INTERVENTIONS FOR EDUCATORS provides a fine guide to helping students with genetic disorders and discusses the physical and mental impact of disorders ranging from autism and shyness to acquired disorders from drugs, alcoholism and allergies. Case studies provide a fine foundation of strategies educators will appreciate. ... Read more

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Genetic Aberrancies and Neurodegenerative Disorders presents critical reviews and emerging findings concerning the roles of genetic mutations and polymorphisms in the pathogenesis of a range of neurological disorders including Alzheimer's and Parkinson's diseases, trinucleotide repeat disorders, stroke, epilepsy and others.This volume, written by leading experts, brings together fundamental information concerning the roles of inherited traits in the pathogenesis of different neurodegenerative disorders.In addition to providing a catalogue of the known genetic alterations that are linked to specific neurodegenerative disorders, the chapters detail the current state of understanding of the cellular and biochemical mechanisms whereby the genetic aberrancies lead to neuronal dysfunction and degeneration. The emerging picture of each disorder, painted by pathological, biochemical and molecular brushes, suggests that they share key mechanisms including increased levels of oxidative stress, perturbed ion homeostasis, mitochondrial dysfunction and apoptotic proteolytic cascades.The existence of specific molecular defectsprovides the opportunity to design experiments that can establish the precise pathogenic mechanism of a specific mutation or genetic risk factor. The value of this approach is exemplified by recent studies of how mutations in Cu/Zn-superoxide dismutase cause amyotrophic lateral sclerosis and how presenilin mutations result in early-onset Alzheimer's disease.A theme developed among the different chapters is that events that occur during aging predispose neurons to genetic aberrancies that promote degenerative cascades, and that specific genetic defects exert their influence on particular populations of neurons in a disorder-specific manner.The chapters in this volume will stimulate readers to generate new hypotheses concerning the pathogenic mechanisms of genetic aberrancies that can be experimentally tested.
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This report presents the findings of a study of people affected by Huntington's chorea and their unaffected relatives, and in particular, of the incidence of functional psychiatric disorder of various types. It also considers the future prospects of the genetics of the condition ... Read more

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The study of disease genetics arguably began in rheumatology, with the description of the hereditary basis of alkaptonuria by Garrod in 1902, and the introduction of the concept of in-born errors of metabolism. A large proportion of the diseases seen by rheumatologists have genetic influences. The dissection of the genetic basis of rheumatic diseases has moved rapidly over the past 15 years. Increasingly, rheumatologists are being asked the question "How likely is it that my children will develop the disease I have?", and about the utility of genetic testing for those diseases. This book aims not to be a hefty tome full of genetics jargon, but a quick reference source for doctors written to help answer those questions. ... Read more

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Thrombotic disease is a major cause of death and disablement in Western society. The most common cause is an inherited defect in one of the many genes encoding a protein which is involved in clotting, its regulation or the process of clot dissolution, fibrinolysis.
Venous Thrombosis: From Genes to Clinical Medicine presents our current knowledge of potential prothrombotic protein abnormalities, together with a clear and concise views of the roles these proteins play in haemostasis, and the use of molecular techniques in the analysis and diagnosis of inherited defects. Each chapter describes a specific protein deficiency, with information on protein structure, function and biochemistry, gene structure and expression, as well as epidemiological and molecular genetic aspects of the deficiency state.
This multi-faceted approach aims to examine the possible causes of venous thrombosis, to explain the underlying molecular defects and to explore the genotype-phenotype relationship in this complex multigene disorder. The potential roles of both epistatic interactions and environmental risk factors are also discussed. Venous Thrombosis: From Genes to Clinical Medicine will be of value to haematologists, genetic counselors, and clinical geneticists. ... Read more