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  • Textbook
  • © 2016

Molecular Pathology in Clinical Practice

Editors:

(view affiliations)
  • Fully updated and largely rewritten new edition

  • Written by experts in the field

  • Provides a comprehensive, state-of-the art review of the field of molecular pathology

  • Includes supplementary material: sn.pub/extras

Buying options

eBook
USD 89.00
Price excludes VAT (USA)
  • ISBN: 978-3-319-19674-9
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book
USD 119.99
Price excludes VAT (USA)
Hardcover Book
USD 169.99
Price excludes VAT (USA)

This is a preview of subscription content, access via your institution.

Table of contents (62 chapters)

  1. Front Matter

    Pages i-xix
  2. Basics of Molecular Biology

    • Deborah Ann Payne
    Pages 1-17
  3. Molecular Pathology Methods

    • D. Hunter Best, Shale A. Dames, Whitney Wooderchak-Donahue, Tracey Lewis, Kelli L. Sumner, Cecily P. Vaughn et al.
    Pages 19-52
  4. Genetics

    1. Front Matter

      Pages 53-54
    2. Genetic Counseling

      • Christine E. Miller
      Pages 55-62
    3. Pedigree Analysis and Risk Assessment

      • Patti Krautscheid, Danielle LaGrave
      Pages 63-76
    4. Bayesian Analysis

      • Robert B. Wilson, Shuji Ogino
      Pages 77-89
    5. Intellectual Disability and Developmental Delay: Cytogenetic Testing

      • Guangyu Gu, Reha Toydemir, Sarah T. South
      Pages 91-100
    6. Developmental Delay: Gene Testing

      • Christin D. Collins, Monica J. Basehore, Kristen J. Champion, Michael J. Friez
      Pages 101-119
    7. Congenital Disorders of Glycosylation

      • Melanie A. Jones, Madhuri R. Hegde
      Pages 121-125
    8. Neuromuscular Diseases

      • Thomas W. Prior
      Pages 127-138
    9. Mitochondrial Disorders

      • Renkui Bai, Jaimie D. Higgs
      Pages 139-159
    10. Metabolic Disorders

      • Lisa Edelmann, Yaping Yang, Amy C. Yang, Ruth Kornreich
      Pages 161-175
    11. Fibroblast Growth Factor Receptor and Related Skeletal Disorders

      • Steven Sperber, Elaine Spector
      Pages 177-187
    12. Cystic Fibrosis

      • Lora J. H. Bean, V. M. Pratt
      Pages 189-196
    13. Deafness

      • A. Eliot Shearer, Robert W. Eppsteiner, Richard J. H. Smith
      Pages 197-201
    14. Coagulation Disorders

      • Rajiv K. Pruthi, Michelle L. Kluge, Aneel A. Ashrani
      Pages 203-223
    15. Cardiovascular Disease

      • Samantha M. Baxter, Birgit H. Funke
      Pages 239-259
    16. Neurodegenerative Disorders

      • Maria Martinez-Lage
      Pages 261-276

About this book

This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics, and proteomics. Throughout the text, emphasis is placed on the molecular variations being detected, the clinical usefulness of the tests, and important clinical and laboratory issues.

The second edition of Molecular Pathology in Clinical Practice will be an invaluable source of information for all practicing molecular pathologists and will also be of utility for other pathologists, clinical colleagues, and trainees.​

Keywords

  • Cancer
  • Genetics
  • Infectious Diseases
  • Laboratory Testing
  • Pharmacogenomics

Reviews

“This is an invaluable source of information for all practicing molecular pathologists, medical geneticists, pathology and genetics residents, and molecular pathology fellows. It also will be useful to surgical and clinical pathologists, hematologists, oncologists, internists, scientists who undertake disease-related basic science and translational research, and medical laboratory technologists. … All chapters are written by pathologists and scientists experienced in the practical applications of clinical molecular pathology tests. … I highly recommend this as one of the must-have and must-read books.” (Michel Nasr, Doody's Book Reviews, June, 2016)

Editors and Affiliations

  • Pathology and Laboratory Medicine, University of Vermont College of Medicine and University of Vermont Medical Center, Burlington, USA

    Debra G.B. Leonard

About the editor

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.

Bibliographic Information

  • Book Title: Molecular Pathology in Clinical Practice

  • Editors: Debra G.B. Leonard

  • DOI: https://doi.org/10.1007/978-3-319-19674-9

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer International Publishing Switzerland 2016

  • Hardcover ISBN: 978-3-319-19673-2

  • Softcover ISBN: 978-3-319-79285-9

  • eBook ISBN: 978-3-319-19674-9

  • Edition Number: 2

  • Number of Pages: XIX, 1001

  • Number of Illustrations: 87 b/w illustrations, 132 illustrations in colour

  • Topics: Pathology, Oncology, Medical Genetics

  • Industry Sectors: Biotechnology, Health & Hospitals, Pharma

Buying options

eBook
USD 89.00
Price excludes VAT (USA)
  • ISBN: 978-3-319-19674-9
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book
USD 119.99
Price excludes VAT (USA)
Hardcover Book
USD 169.99
Price excludes VAT (USA)