Molecular Pathology in Clinical Practice: Genetics

ISBN-13: 9780387873732 / Angielski / Miękka / 2008 / 311 str.

Debra G. Leonard

Opis

Molecular Pathology Testing in Clinical Practice: Genetics is an authoritative and comprehensive guide that provides the general pathologist in clinical practice, as well as residents and fellows during their training, with the current standard in molecular genetic testing. The book integrates the latest advancements in the field with the basic principles and practical applications.

Recenzje

From the reviews:

"The purpose is to provide a reference for those interested ... in heritable disorders. ... The book is written for practicing molecular geneticists, but it would also be useful to laboratory medicine/pathology residents in training, molecular pathology or molecular diagnostics fellows, or clinical practitioners for whom this discipline would have great interest (i.e., pediatricians, genetic counselors, etc.)." (Valerie L Ng, Doody's Review Service, February, 2009)

Spis treści

Basics of Molecular Biology.- Molecular Pathology Methods.- Genetic Counseling.- Pedigree Analysis and Risk Assessment.- Bayesian Analysis.- Developmental Disabilities.- Neuromuscular Diseases.- Molecular Genetic Testing for Metabolic Disorders.- Fibroblast Growth Factor Receptor–Related Skeletal Disorders.- Cystic Fibrosis.- Deafness.- Coagulation Disorders.- Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility.- Cardiovascular Disease.- Neurodegenerative Disorders.- Skin and Connective Tissue Disorders.- Inherited Breast Cancer.- Familial Adenomatous Polyposis and Turcot and Peutz-Jeghers Syndromes.- Hereditary Nonpolyposis Colorectal Cancer.- Multiple Endocrine Neoplasia Syndromes.- The Neurofibromatoses.- TP53 Mutation and Li-Fraumeni Syndrome.- Von Hippel-Lindau Disease.- Perentage and Relationship Testing.- Molecular Pathology Laboratory Management.- From Research to Clinical Practice.

Blurb

Molecular Pathology in Clinical Practice: Genetics is an authoritative and comprehensive guide that provides the general pathologist in clinical practice, as well as residents and fellows during their training, with the current standard in molecular genetic testing. The book integrates the latest advancements in the field with the basic principles and practical applications.