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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.
Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics
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Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.
Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics
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This manual was designed with the objective of introducing some concepts, systematizing the existing knowledge and guiding the Health Surveillance Program for Congenital Toxoplasmosis in the city of Londrina.
Toxoplasmosis. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Coccidiosis --- MEDICAL
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Congenital Diaphragmatic hernia (CDH) occurs in approximately 1 in every 2,500 births and the cause is yet unknown. In CDH the diaphragm fails to form correctly, allowing herniation of the abdominal contents into the thoracic cavity and results in pulmonary hypolplasia. This book describes the embryology, genetics, antenatal diagnosis, management, associated congenital anomalies and long-term outcomes of children with CDH. It is a valuable up-to-date reference for pediatricians, neonatologists and allied health professionals who care for children with CDH.
Diaphragmatic hernia. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Diaphragm --- Hernia --- Paediatric medicine
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The reprint, "Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies", provides a collection of original research articles and systematic reviews focused on diverse conditions stemming from a pathogenic single gene mutation. The articles are focused on the molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways and cell death. Moreover, specific experimental therapies including drug discovery, drug repositioning, gene therapy and protein-based therapeutics are discussed.
Genetic disorders --- Rare diseases --- Treatment. --- Rare disorders --- Uncommon diseases --- Diseases --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics
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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.
Medical genetics. --- Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects
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Over the past several decades there has been an explosion of interest in genetics and genetic inheritance within both the research community and the mass media. The science of genetics now forecasts great advances in alleviating disease and prolonging human life, placing the family and kin group under the spotlight.In Experiencing the New Genetics, Kaja Finkler argues that the often uncritical presentation of research on genetic inheritance as well as the attitudes of some in the biomedical establishment contribute to a "genetic essentialism," a new genetic determinism, and the medicalization of kinship in American society. She explores some of the social and cultural consequences of this phenomenon. Finkler discovers that the new genetics can turn a healthy person into a perpetual patient, complicate the redefinition of the family that has been occurring in American society for the past few decades, and lead to the abdication of responsibility for addressing the problem of unhealthy environmental conditions. Experiencing the New Genetics will assist scholars and general readers alike in making sense of this timely and multifaceted issue.
#VCV monografie 2000 --- Families --- Families. --- Heredity, Human --- Kinship. --- Medical genetics --- Social aspects. --- Kinship --- Heredity in humans --- Family --- Family life --- Family relationships --- Family structure --- Relationships, Family --- Structure, Family --- Social aspects --- Social conditions --- SOCIAL SCIENCE --- Anthropology / General --- Anthropology --- Biomedical Research --- Biology --- Genotype --- Psychology, Social --- Medicine --- Disease Susceptibility --- Sociology --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Behavioral Sciences --- Diseases --- Genetic Phenomena --- Disease Attributes --- Social Sciences --- Health Occupations --- Behavioral Disciplines and Activities --- Research --- Biological Science Disciplines --- Behavior and Behavior Mechanisms --- Anthropology, Education, Sociology and Social Phenomena --- Disciplines and Occupations --- Psychiatry and Psychology --- Science --- Phenomena and Processes --- Natural Science Disciplines --- Pathologic Processes --- Pathological Conditions, Signs and Symptoms --- Genetics, Medical --- Adoption --- Genetic Determinism --- Genetics, Behavioral --- Genetic Research --- Anthropology, Cultural --- Genetics --- Genetic Predisposition to Disease --- Genetic Diseases, Inborn --- Social & Cultural Anthropology --- Ethnology --- Clans --- Consanguinity --- Kin recognition --- Eugenics --- Human beings --- Prenatal influences --- Social institutions --- Birth order --- Domestic relations --- Home --- Households --- Marriage --- Matriarchy --- Parenthood --- Patriarchy --- Constitution --- 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 --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Genetic Structures --- Cultural Anthropology --- Material Culture --- Ethnography --- Culture, Material --- Ethnographies --- Material Cultures --- Qualitative Research --- Research, Genetic --- Behavioral Genetics --- Psychogenetics --- Behavior --- Sociobiology --- Extended Family --- Family Life Cycle --- Family Research --- Filiation --- Kinship Networks --- Relatives --- Family Life Cycles --- Family Members --- Family, Reconstituted --- Stepfamily --- Extended Families --- Families, Extended --- Families, Reconstituted --- Family Member --- Family, Extended --- Kinship Network --- Life Cycle, Family --- Life Cycles, Family --- Network, Kinship --- Networks, Kinship --- Reconstituted Families --- Reconstituted Family --- Research, Family --- Stepfamilies --- Grandparents --- Pathological Processes --- Processes, Pathologic --- Processes, Pathological --- Determinism, Genetic --- Adoptions --- Child, Adopted --- Medical Genetics --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Molecular Medicine --- Symptoms and General Pathology --- Behavior And Behavior Mechanism --- 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 --- Sciences --- 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 --- Laboratory Research --- Research Activities --- Research and Development --- Research Priorities --- Activities, Research --- Activity, Research --- Development and Research --- Priorities, Research --- Priority, Research --- Research Activity --- Research Priority --- Research, Laboratory --- Ethics, Research --- Health Professions --- Health Occupation --- Health Profession --- Profession, Health --- Professions, Health --- Occupations --- Science, Social --- Sciences, Social --- Social Science --- Attribute, Disease --- Attributes, Disease --- Disease Attribute --- Genetic Concepts --- Genetic Phenomenon --- Genetic Process --- Genetic Processes --- Concept, Genetic --- Concepts, Genetic --- Genetic Concept --- Phenomena, Genetic --- Phenomenon, Genetic --- Process, Genetic --- Processes, Genetic --- Molecular Biology --- Proxemics --- Behavioral Science --- Proxemic --- Science, Behavioral --- Sciences, Behavioral --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- General Social Development and Population --- Susceptibility, Disease --- Diathesis --- Diatheses --- Disease Susceptibilities --- Susceptibilities, Disease --- Medical Specialities --- Medical Specialties --- Medical Specialty --- Specialities, Medical --- Specialties, Medical --- Specialty, Medical --- Medical Speciality --- Speciality, Medical --- Health Workforce --- Psychology, Perceptual --- Social Psychology --- Perceptual Psychology --- Genogroup --- Genogroups --- Genotypes --- Genotyping Techniques --- Experimental Medicine --- Investigational Medicine --- Investigative Medicine --- Research, Biomedical --- Research, Medical --- Medical Research --- Medicine, Experimental --- Medicine, Investigational --- Medicine, Investigative --- Animals, Laboratory --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- genetics --- Genetic aspects --- Psychology --- Factors, Psychological --- Psychological Factors --- Psychological Side Effects --- Psychologists --- Psychosocial Factors --- Side Effects, Psychological --- Factor, Psychological --- Factor, Psychosocial --- Factors, Psychosocial --- Psychological Factor --- Psychological Side Effect --- Psychologist --- Psychosocial Factor --- Side Effect, Psychological --- Vocations --- Occupation --- Vocation --- Occupational Groups --- Anthropology. --- Caregiving. --- Folklore. --- Health. --- Linguistics. --- Medicine. --- Public Policy. --- Sociology.
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