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Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. Following a series of introductory chapters on the general principles of developmental biology, developmental genetics, and the development of individual tissues or organ systems, more than one hundred clinical genetic disorders are considered. The clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview.; For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counselling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. It is authoritative, clearly written, consistently organized, and attractively illustrated in colour.
Congenital Abnormalities --- Human Development --- Genetic Diseases, Inborn --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Growth and Development --- Behavior and Behavior Mechanisms --- Physiological Processes --- Diseases --- Psychiatry and Psychology --- Physiological Phenomena --- Phenomena and Processes --- Pathology --- Medicine --- Health & Biological Sciences --- Behavior And Behavior Mechanism --- Development and Growth --- Developmental Biology --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Physiological Concepts --- Physiological Phenomenon --- Physiological Process --- Concept, Physiological --- Concepts, Physiological --- Phenomena, Physiological --- Phenomenas, Physiological --- Phenomenon, Physiological --- Physiological Concept --- Process, Physiological --- Processes, Physiological --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Fetal Anomalies --- Fetal Malformations --- Abnormality, Congenital --- Anomaly, Fetal --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Deformity --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal --- Fetal Diseases --- Infant, Newborn, Diseases --- Teratogenesis --- Development, Human --- Humans --- Psychology, Developmental --- Psychiatry
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The advances in our understanding of genetics has exploded since the publication of the first edition of Inherited Cancer Syndromes. We’ve moved from an incomplete understanding of the human genome to the availability of over-the-counter DNA analysis kits. There is simply too much complicated, high-level science for a busy clinician to meaningfully absorb without a filter. Inherited Cancer Syndromes is designed to bridge that gap. With this new edition, the clinical content has been expanded and clarified in order to be more tightly focused on the real-world implications of emerging therapies. The chapter authors are among the leading experts in these topics. Naturally, this book is not meant to be an exhaustive “how to” textbook or procedure-heavy monograph, but a clinically relevant overview of this dynamic and difficult aspect of cancer patient care. “ The chapters on syndromes are divided by type of cancer, and each includes discussions of risk assessment, indications for genetic testing, interpretation of test results, and integration into clinical management of risk estimates and results of genetic testing. The chapter on breast cancer also provides an insightful discussion of surrogate end-point markers. Each syndrome of susceptibility to polyposis and nonpolyposis colon cancer is described, with algorithms as to when genetic testing is indicated. Guidelines for prevention and management follow. … This book provides the knowledge base needed for most physicians to incorporate the principles of inherited susceptibility to cancer and genetic testing properly into their practices. It is highly recommended, since many physicians and health care workers have not been trained in this area, which has become an established part of clinical medicine.” Book Review, New England Journal of Medicine Volume 351:2137-2138 November 11, 2004 Number 20.
Cancer -- Genetic aspects. --- Genetic disorders. --- Medicine. --- Cancer --- Genetic disorders --- Biology --- Neoplasms --- Genetic Diseases, Inborn --- Biological Science Disciplines --- Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Neoplastic Syndromes, Hereditary --- Genetics --- Natural Science Disciplines --- Disciplines and Occupations --- Medicine --- Surgery & Anesthesiology --- Health & Biological Sciences --- Oncology --- Surgery - General and By Type --- Genetic aspects --- Natural Sciences --- Physical Sciences --- Discipline, Natural Science --- Disciplines, Natural Science --- Natural Science --- Natural Science Discipline --- Physical Science --- Science, Natural --- Science, Physical --- Sciences, Natural --- Sciences, Physical --- Hereditary Cancer Syndromes --- Hereditary Neoplastic Syndromes --- Cancer Syndromes, Hereditary --- Cancer Syndrome, Hereditary --- Hereditary Cancer Syndrome --- Hereditary Neoplastic Syndrome --- Neoplastic Syndrome, Hereditary --- Syndrome, Hereditary Cancer --- Syndrome, Hereditary Neoplastic --- Syndromes, Hereditary Cancer --- Syndromes, Hereditary Neoplastic --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Biologic Sciences --- Biological Science --- Science, Biological --- Sciences, Biological --- Biological Sciences --- Life Sciences --- Biologic Science --- Biological Science Discipline --- Discipline, Biological Science --- Disciplines, Biological Science --- Life Science --- Science Discipline, Biological --- Science Disciplines, Biological --- Science, Biologic --- Science, Life --- Sciences, Biologic --- Sciences, Life --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Benign Neoplasms --- Malignancy --- Neoplasia --- Neoplasm --- Neoplasms, Benign --- Tumors --- Benign Neoplasm --- Cancers --- Malignancies --- Neoplasias --- Neoplasm, Benign --- Tumor --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Cancer genetics --- Cancer research. --- Human genetics. --- Oncology. --- Surgery. --- Surgical oncology. --- Medicine & Public Health. --- General Surgery. --- Surgical Oncology. --- Human Genetics. --- Cancer Research. --- Oncology . --- Oncologic surgery --- Oncological surgery --- Surgical oncology --- Surgery, Primitive --- Heredity, Human --- Human biology --- Physical anthropology --- Excision --- Treatment --- Cancer research --- Genetic aspects.
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