Read, Andrew P. 1939- creator author. Donnai, D. (Dian) 1945- author. text bibliography Print books. enk 2015 Third edition. monographic eng

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xxiii, 448 pages : illustrations (chiefly colour) ; 27 cm. "In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool; the checking of a patient's whole exome for the cause of their problem; noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation; a new integrated treatment of epigenetics; mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes; and dysmorphology in more detail. New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists."--Publisher's website. What can we learn from a family history? -- How can a patient's chromosomes be studied? -- How do genes work? -- How can a patient's DNA be studied? -- How can we check a patient's DNA for gene mutations? -- What do mutations do? -- What is epigenetics? -- How do our genes affect our metabolism, drug responses and immune system? -- How do researchers identify genes for mendelian diseases? -- Why are some conditions common and others rare? -- When is screening useful? -- Is cancer genetic? -- Should we be testing for genetic susceptibility to common diseases? -- What clinical services are available for families with genetic disorders? -- Guidance for self-assessment questions. Andrew Read and Dian Donnai. Previous edition: 2011. Includes bibliographical references and index. Medical genetics Genetics, Medical methods Genetic Testing Genetic Diseases, Inborn RB155 .R4 2015 9781907904677 (pbk) EQO 150615 20161031122311.0 912496049 eng