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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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In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Genetic disorders --- Human chromosome abnormalities --- Molecular diagnosis --- Diagnosis. --- Genetic diagnosis --- Genetic testing --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology

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This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and family pedigrees. The book begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. Worked examples are provided throughout the text. The disorders are selected to be as widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, non-parametric methods, homozygosity mapping and physical mapping. There is also a new chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions and quantification aof mitochondrial mutations.

Genetic disorders --- Medical genetics --- Hereditary Diseases --- DNA Probes --- Molecular Probe Techniques. --- Risk Factors. --- Diagnosis. --- Risk factors. --- Mathematics --- Problems, exercises, etc. --- diagnosis. --- diagnostic use. --- genetics. --- genetisch onderzoek --- risicoberekening --- recherche génétique --- calcul des risques --- Dna probes --- Hereditary diseases --- Molecular probe techniques. --- Diagnostic use. --- Genetics. --- Clinical genetics --- Diseases --- Heredity of disease --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Inherited diseases --- Genetic diagnosis --- Diagnosis --- Risk factors --- Mathematics&delete& --- Problems, exercises, etc --- Genetic aspects --- Human genetics --- Medical sciences --- Pathology

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Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Also available in a CD-ROM edition (ISBN: 1-58829-974-5). Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.

Genetic disorders --- Genetic counseling --- Diagnosis --- Health counseling --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Pathology. --- Medicine. --- Molecular Medicine. --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Disease (Pathology) --- Medicine --- Medicine, Preventive --- Health Workforce --- Molecular biology. --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology

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This volume offers a comprehensive introduction to the burgeoning science of psychiatric genetics. Designed for clinical utility, the book gives a solid foundation for understanding the etiologies of such frequently encountered disorders as schizophrenia, bipolar disorder, depression, and Alzheimer's disease. Throughout, the authors demonstrate how genetic knowledege can enhance clinical assessment, intervention and preventive efforts. Special emphasis is given to the interplay of genetic and environmental factors in the causation and expression of illness. Also covered are the tools and methods of genetic research, clinical and ethical issues raised by new genetic technologies and how to counsel clients and families about genetic risks.

Medical genetics --- Mental illness --- Mental Disorders --- Genetic Predisposition to Disease --- Hereditary Diseases --- Psychiatry --- Psychological aspects. --- Genetic aspects. --- genetics. --- methods. --- geestelijke gezondheid (geestelijke gezondheidszorg, geestesziekte) --- psychiatrie --- genetica (genen) --- santé mentale (soins de santé mentale, maladie mentale) --- génétique (gènes) --- Mental disorders --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Psychological aspects --- Genetic aspects