The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.
Couch FJ, Nathanson KL, Offit K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014;343:1466–1470. Farashi S, Kryza T, Clements J, Batra J. Post-GWAS in prostate cancer: from genetic ...
The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing.
Deletion 2q37 2q37 Wisconsin 3q24-q25 MBNL1 Wolf-Hirschhorn 4p Cri-du-chat 5p 7q11.23 Williams (WilliamsBeuren) ELN (Supravalvular aortic stenosis) LIMK1 (Neurological features) LangerÀGiedion 8q24.11 TRPS1 (Trichorhinophalangeal ...
Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics •Interactive self ...
Subsequent works such as “Medical Ethics,” written in 1803 by English physician Thomas Pickering, the 1847 ethical code of the American Medical Association, and Dr. Richard Cabot emphasized TABLE 7–1. Principles of Bioethics.
"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome.
Johnson D, Morrison N, Grant L, Turner T, Fantes J, Connor JM, Murday V (2006) Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.
This highly popular textbook of medical genetics covers both the scientific basis and clinical applications of genetics. It remains well written and easy to understand -- two of its key...
( Adapted from Donahue RP , Bias WB , Renwick JH , McKusick VA . ... IV ala a / b a / b a / b Since Donahue's observation in 1968 , dramatic advances in molecular genetic technology have led to the successful mapping of more than 16,000 ...
Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic ...