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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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Genetic disorders. --- Steroids. --- Sterides --- Sterids --- Cyclopentaphenanthrene --- Lipids --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Genetic Diseases, Inborn --- Steroids
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Diagnosis, Laboratory --- Genetic disorders --- Diagnosis --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Pathology --- Genetic Testing --- Genetic Diseases, Inborn --- diagnosis
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Ian Young addresses the challenge of calculations in genetic counselling problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems.
Genetic counseling. --- Health risk assessment. --- Probabilities. --- Genetic disorders --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Probability --- Statistical inference --- Combinations --- Mathematics --- Chance --- Least squares --- Mathematical statistics --- Risk --- Assessment, Health risk --- Health hazard appraisal --- Health hazard assessment --- Health risk appraisal --- HRA (Public health) --- Human risk assessment --- Medicine, Preventive --- Public health --- Risk assessment --- Environmental health --- Health counseling --- Risk factors --- Mathematical models. --- Genetic Counseling. --- Risk Assessment.
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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
Medical genetics. --- Diagnosis. --- Chromosomes. --- Genetic disorders. --- Genetic counseling. --- Medical Genetics. --- Genetic Service. --- Health counseling --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Chromosome theory --- Cell nuclei --- Crossing over (Genetics) --- Cytotaxonomy --- Genetics --- Karyokinesis --- Linkage (Genetics) --- Examinations, Medical (Diagnosis) --- Medical diagnosis --- Medical examinations (Diagnosis) --- Medical tests (Diagnosis) --- Clinical medicine --- Prognosis --- Symptoms --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Diagnosis --- Testing --- Genetic aspects --- Human chromosomes. --- Chromosomes
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Strokes are characterized by restriction of blood flow to the brain and are responsible for imposing a very significant burden on healthcare systems. This text asserts that strokes should be thought of as a syndrome, or collection of disease processes, rather than a single disease.
Hemorrhage --- Risk --- Cerebrovascular Disorders --- Causality --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Probability --- Pathologic Processes --- Epidemiologic Factors --- Vascular Diseases --- Brain Diseases --- Diseases --- Central Nervous System Diseases --- Cardiovascular Diseases --- Statistics as Topic --- Quality of Health Care --- Pathological Conditions, Signs and Symptoms --- Public Health --- Environment and Public Health --- Health Care Evaluation Mechanisms --- Nervous System Diseases --- Epidemiologic Methods --- Health Care Quality, Access, and Evaluation --- Health Care --- Investigative Techniques --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Intracranial Hemorrhages --- Risk Factors --- Stroke --- Genetic Diseases, Inborn --- Medicine --- Health & Biological Sciences --- Neurology --- 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 --- CVA (Cerebrovascular Accident) --- Cerebrovascular Accident, Acute --- Cerebrovascular Stroke --- Stroke, Acute --- Apoplexy --- Cerebral Stroke --- Cerebrovascular Accident --- Cerebrovascular Apoplexy --- Vascular Accident, Brain --- Acute Cerebrovascular Accident --- Acute Cerebrovascular Accidents --- Acute Stroke --- Acute Strokes --- Apoplexy, Cerebrovascular --- Brain Vascular Accident --- Brain Vascular Accidents --- CVAs (Cerebrovascular Accident) --- Cerebral Strokes --- Cerebrovascular Accidents --- Cerebrovascular Accidents, Acute --- Cerebrovascular Strokes --- Stroke, Cerebral --- Stroke, Cerebrovascular --- Strokes --- Strokes, Acute --- Strokes, Cerebral --- Strokes, Cerebrovascular --- Vascular Accidents, Brain --- Population at Risk --- Populations at Risk --- Health Correlates --- Risk Factor Scores --- Risk Scores --- Correlates, Health --- Factor, Risk --- Risk Factor --- Risk Factor Score --- Risk Score --- Score, Risk --- Score, Risk Factor --- Organs at Risk --- Posterior Fossa Hemorrhage --- Brain Hemorrhage --- Hemorrhage, Intracranial --- Brain Hemorrhages --- Hemorrhage, Brain --- Hemorrhage, Posterior Fossa --- Hemorrhages, Brain --- Hemorrhages, Intracranial --- Hemorrhages, Posterior Fossa --- Intracranial Hemorrhage --- Posterior Fossa Hemorrhages --- Investigative Technics --- Investigative Technic --- Investigative Technique --- Technic, Investigative --- Technics, Investigative --- Technique, Investigative --- Techniques, Investigative --- Community-Based Distribution --- Contraceptive Distribution --- Delivery of Healthcare --- Dental Care Delivery --- Distribution, Non-Clinical --- Distribution, Nonclinical --- Distributional Activities --- Healthcare --- Healthcare Delivery --- Healthcare Systems --- Non-Clinical Distribution --- Nonclinical Distribution --- Delivery of Dental Care --- Health Care Delivery --- Health Care Systems --- Activities, Distributional --- Activity, Distributional --- Care, Health --- Community Based Distribution --- Community-Based Distributions --- Contraceptive Distributions --- Deliveries, Healthcare --- Delivery, Dental Care --- Delivery, Health Care --- Delivery, Healthcare --- Distribution, Community-Based --- Distribution, Contraceptive --- Distribution, Non Clinical --- Distributional Activity --- Distributions, Community-Based --- Distributions, Contraceptive --- Distributions, Non-Clinical --- Distributions, Nonclinical --- Health Care System --- Healthcare Deliveries --- Healthcare System --- Non Clinical Distribution --- Non-Clinical Distributions --- Nonclinical Distributions --- System, Health Care --- System, Healthcare --- Systems, Health Care --- Systems, Healthcare --- Healthcare Quality, Access, and Evaluation --- Epidemiologic Method --- Epidemiological Methods --- Methods, Epidemiologic --- Epidemiological Method --- Method, Epidemiologic --- Method, Epidemiological --- Methods, Epidemiological --- Epidemiology --- Nervous System Disorders --- Neurological Disorders --- Neurologic Disorders --- Disease, Nervous System --- Diseases, Nervous System --- Disorder, Nervous System --- Disorder, Neurologic --- Disorder, Neurological --- Disorders, Nervous System --- Disorders, Neurologic --- Disorders, Neurological --- Nervous System Disease --- Nervous System Disorder --- Neurologic Disorder --- Neurological Disorder --- Healthcare Evaluation Mechanisms --- Evaluation Mechanism, Healthcare --- Evaluation Mechanisms, Healthcare --- Healthcare Evaluation Mechanism --- Mechanism, Healthcare Evaluation --- Mechanisms, Healthcare Evaluation --- Community Health --- Environment, Preventive Medicine & Public Health --- Environment, Preventive Medicine and Public Health --- Health, Community --- Health, Public --- Preventive Medicine --- Education, Public Health Professional --- Symptoms and General Pathology --- Pharmacy Audit --- Quality of Care --- Quality of Healthcare --- Audit, Pharmacy --- Care Quality --- Health Care Quality --- Healthcare Quality --- Pharmacy Audits --- Area Analysis --- Estimation Technics --- Estimation Techniques --- Indirect Estimation Technics --- Indirect Estimation Techniques --- Multiple Classification Analysis --- Service Statistics --- Statistical Study --- Statistics, Service --- Tables and Charts as Topic --- Analyses, Area --- Analyses, Multiple Classification --- Area Analyses --- Classification Analyses, Multiple --- Classification Analysis, Multiple --- Estimation Technic, Indirect --- Estimation Technics, Indirect --- Estimation Technique --- Estimation Technique, Indirect --- Estimation Techniques, Indirect --- Indirect Estimation Technic --- Indirect Estimation Technique --- Multiple Classification Analyses --- Statistical Studies --- Studies, Statistical --- Study, Statistical --- Technic, Indirect Estimation --- Technics, Estimation --- Technics, Indirect Estimation --- Technique, Estimation --- Technique, Indirect Estimation --- Techniques, Estimation --- Techniques, Indirect Estimation --- Cardiovascular Disease --- Disease, Cardiovascular --- Diseases, Cardiovascular --- Cardiology --- CNS Diseases --- Central Nervous System Disorders --- CNS Disease --- Central Nervous System Disease --- Central Nervous System Disorder --- Brain Disorders --- CNS Disorders, Intracranial --- Central Nervous System Disorders, Intracranial --- Central Nervous System Intracranial Disorders --- Encephalon Diseases --- Encephalopathy --- Intracranial CNS Disorders --- Intracranial Central Nervous System Disorders --- Brain Disease --- Brain Disorder --- CNS Disorder, Intracranial --- Encephalon Disease --- Encephalopathies --- Intracranial CNS Disorder --- Disease, Vascular --- Diseases, Vascular --- Vascular Disease --- Determinant, Epidemiologic --- Determinants, Epidemiologic --- Epidemiologic Determinant --- Epidemiologic Factor --- Factor, Epidemiologic --- Factors, Epidemiologic --- Epidemiologic Determinants --- Pathological Processes --- Processes, Pathologic --- Processes, Pathological --- Probabilities --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Causation --- Enabling Factors --- Multifactorial Causality --- Multiple Causation --- Predisposing Factors --- Reinforcing Factors --- Causalities --- Causalities, Multifactorial --- Causality, Multifactorial --- Causation, Multiple --- Causations --- Causations, Multiple --- Enabling Factor --- Factor, Enabling --- Factor, Predisposing --- Factor, Reinforcing --- Factors, Enabling --- Factors, Predisposing --- Factors, Reinforcing --- Multifactorial Causalities --- Multiple Causations --- Predisposing Factor --- Reinforcing Factor --- Mediation Analysis --- Cerebrovascular Diseases --- Cerebrovascular Insufficiency --- Cerebrovascular Occlusion --- Brain Vascular Disorders --- Intracranial Vascular Disorders --- Vascular Diseases, Intracranial --- Brain Vascular Disorder --- Cerebrovascular Disease --- Cerebrovascular Disorder --- Cerebrovascular Insufficiencies --- Cerebrovascular Occlusions --- Disease, Cerebrovascular --- Diseases, Cerebrovascular --- Insufficiencies, Cerebrovascular --- Insufficiency, Cerebrovascular --- Intracranial Vascular Disease --- Intracranial Vascular Diseases --- Intracranial Vascular Disorder --- Occlusion, Cerebrovascular --- Occlusions, Cerebrovascular --- Vascular Disease, Intracranial --- Vascular Disorder, Brain --- Vascular Disorder, Intracranial --- Vascular Disorders, Brain --- Vascular Disorders, Intracranial --- Relative Risk --- Relative Risks --- Risk, Relative --- Risks --- Risks, Relative --- Incidence --- Risk Reduction Behavior --- Harm Reduction --- Bleeding --- Hemorrhages --- methods --- Social Risk Factors --- Factor, Social Risk --- Factors, Social Risk --- Risk Factor, Social --- Risk Factors, Social --- Social Risk Factor --- Adverse Cardiac Event --- Cardiac Events --- Major Adverse Cardiac Events --- Adverse Cardiac Events --- Cardiac Event --- Cardiac Event, Adverse --- Cardiac Events, Adverse --- Event, Cardiac --- Cerebrovascular disease --- Genetic aspects.
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