03116cam a2200433Mi 4500 912496049 US-DLC 20161031122311.0 150615s2015 enka b 001 0 eng d 9781907904677 (pbk) 1907904670 (pbk) (OCoLC)912496049 EQO eng EQO OCLCO YDXCP RB155 .R4 2015 QU 50 R282n 2015 Read, Andrew P., 1939- author. New clinical genetics 3 / Andrew Read and Dian Donnai. Genetics Third edition. Banbury : Scion, 2015. ©2015. xxiii, 448 pages : illustrations (chiefly colour) ; 27 cm. text rdacontent unmediated rdamedia volume rdacarrier Previous edition: 2011. Includes bibliographical references and index. 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. "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. Medical genetics. Genetics, Medical methods. Genetic Testing. Genetic Diseases, Inborn. Print books. local 4 Donnai, D. (Dian), 1945- author. lcc BOOKS Alfaisal Main Library 2015. 312371 312371 0 0 lcc 0 0 AU AU GEN 2016-10-09 0 RB155.R4 2015 AU0000000005484 2016-10-09 00:00:00 465.00 2016-10-09 BOOKS