Molecular Diagnosis of Genetic Diseases by Rob EllesMolecular Diagnosis of Genetic Diseases by Rob Elles

Molecular Diagnosis of Genetic Diseases

EditorRob Elles

Paperback | November 9, 2010

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This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Title:Molecular Diagnosis of Genetic DiseasesFormat:PaperbackDimensions:397 pages, 9.02 × 5.98 × 0 inPublished:November 9, 2010Publisher:Humana PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:1617372595

ISBN - 13:9781617372599

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Table of Contents

Optimizing PCR for Clinical DiagnosisMichael P. BulmanCurrent and Emerging Techniques for Diagnostic Mutation Detection: An Overview of Methods for Mutation DetectionClaire F. Taylor and Graham R. TaylorMutation Scanning for the Clinical Laboratory: DHPLCJohn F. Harvey and Julian R. SampsonMutation Scanning for the Clinical Laboratory-Protein Truncation TestYvonne WallisMutation Scanning for the Clinical Laboratory: Automated Fluorescent SequencingAndrew J. WallaceComparative Sequence AnalysisChris Mattocks, Patrick Tarpey, and Jo WhittakerGene Dosage Analysis by Multiplex Amplifiable Probe HybridizationJohn A. L. Armour, Isa A. Rad, Ed J. Hollox, Seyed M. Akrami, and Gareth S. CrossPrenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCRKathy MannFragile X DiseaseValérie Biancalana and James MacphersonHuntington's DiseaseLinda MeredithHematological Applications: HemoglobinopathiesJohn M. OldCystic FibrosisHarry Cuppens, Elisabeth Dequeker, and Jean-Jacques CassimanFamilial Adenomatous PolyposisFiona MacdonaldMultiple Endocrine Neoplasia Types 1 and 2Sian EllardNeurofibromatosis Type 1: A Common Familial Cancer SyndromeMeena Upadhyaya, Peter Thompson, Song Han, and David N. CooperDuchenne and Becker Muscular DystrophyAlexander L. J. Kneppers, Ieke B. Ginjaar, and Egbert BakkerSpinal Muscular AtrophyHans SchefferQuality Management in Molecular GeneticsEls Voorhoeve, Alexander L. J. Kneppers, and Simon PattonRegulation of Genetic Testing in Clinical PracticeUlf KristofferssonIndex

Editorial Reviews

Reviews of the first edition:"The chapters are clear and well written, and the book would be useful to those looking for a technique manual directed specifically toward clinical application of molecular genetic diagnostic testing. Three Stars" -Doody's Health Sciences Book Review Journal "The book's scope, crisp text, attention to details, and spiral binding all make this a useful benchtop reference manual, to which this already stained copy will testify." -Laboratory Corporation of America"With its contribution to the series Methods in Molecular Medicine, Rob Elles has filled a gap...provides a fairly complete view on the current state of the art in clinical molecular genetics. A wealth of information and experience is described by Elles." -Med Genet"This book will be widely welcomed by scientists involved in the molecular diagnosis of inherited disorders. For the first time, protocols, support information and references for a dozen single gene disorders are gathered into a single source." -Trends in Genetics