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Molecular Pathology in Clinical Practice: Genetics de Debra G.B. Leonard

Molecular Pathology in Clinical Practice: Genetics

Editat de Debra G.B. Leonard
en Limba Engleză Paperback – 11 dec 2008
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.
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Specificații

ISBN-13: 9780387873732
ISBN-10: 0387873732
Pagini: 311
Ilustrații: XIV, 311 p.
Dimensiuni: 210 x 279 x 20 mm
Greutate: 0.77 kg
Ediția:2009
Editura: Springer Us
Colecția Springer
Locul publicării:New York, NY, United States

Public țintă

Professional/practitioner

Descriere

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.

Cuprins

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.

Recenzii

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)

Textul de pe ultima copertă

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.

Caracteristici

63 illustrations – 52 tables
Provides current standards in molecular testing

Notă biografică

Debra G.B. Leonard, M.D., Ph.D. is Professor, Vice Chair for Laboratory Medicine, Director of the Clinical Laboratories, and Director of the Pathology Residency Training Program in the Department of Pathology and Laboratory Medicine at Weill Cornell Medical College and NewYork-Presbyterian Hospital. As of July 1, 2009, Dr. Leonard was appointed Chief Diversity Officer for Weill Cornell Medical College. She is an expert in molecular diagnostics for genetic, cancer and infectious diseases. Her M.D. and Ph.D. degrees were completed at the New York University School of Medicine, where she also did her postgraduate clinical training in Anatomic Pathology, including a Surgical Pathology Fellowship. She is certified by the American Board of Pathology in Anatomic Pathology, and by the American Boards of Pathology and Medical Genetics in Molecular Genetic Pathology. Currently, Dr. Leonard is a member of the Institute of Medicine Roundtable on Translating Genomic-based Research for Health and Chair of the Diagnostic Applications Working Group of this Roundtable. Dr. Leonard is a past member of the Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) to Secretary Michael O. Leavitt, and a past President of the Association for Molecular Pathology. She has spoken widely on various molecular pathology test services, the future of molecular diagnostics and the impact of gene patents on molecular pathology practice and patient access to molecular diagnostic testing services. Most recently, Dr. Leonard was honored by receiving the 2009 Leadership Award from the Association for Molecular Pathology.