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Affective disorders --- Genetic aspects --- Affective disorders - Genetic aspects.
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Affective disorders --- Genetic aspects --- Affective disorders - Genetic aspects.
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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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Genetic disorders. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics
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Chimerism --- Genetic disorders --- Chimerism. --- Genetic disorders. --- Chimera (Genetics) --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Chimaera (Genetics) --- Chimeras (Genetics) --- Diseases --- Medical genetics --- Genetics
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Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine.
Genetic disorders. --- Mutation (Biology) --- Genetics --- Variation (Biology) --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics
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"The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action"--Publisher's description.
Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Human chromosome abnormalities --- Genetic disorders --- Disorders, Genetic --- Diseases --- Medical genetics --- Human chromosomes --- Chromosome abnormalities --- Diagnosis --- Abnormalities
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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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