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20231120112152.0 |
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|a 962154372
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|a 9780128029718
|q (electronic bk.)
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|a 0128029714
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|a RB43.7
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|a 616.07/56
|2 23
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|a Molecular diagnostics /
|c editor-in-chief: George P. Patrinos ; associate editors: Wilhelm J. Ansorge, Phillip B. Danielson.
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|a Third edition.
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|a Amsterdam ;
|a Boston :
|b Academic Press is an imprint of Elsevier,
|c [2016]
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|c �2017
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|a 1 online resource :
|b illustrations
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|a text
|b txt
|2 rdacontent
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|a computer
|b c
|2 rdamedia
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|a online resource
|b cr
|2 rdacarrier
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|a Includes bibliographical references and index.
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|a Online resource; title from PDF title page (ScienceDirect, viewed November 14, 2016).
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|a "Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management."--Provided by publisher
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|a Front Cover; Molecular Diagnostics; Molecular Diagnostics; Copyright; Contents; List of Contributors; Preface, Third Edition; 1 -- Molecular Diagnostics: Past, Present, and Future; 1.1 INTRODUCTION; 1.2 HISTORY OF MOLECULAR DIAGNOSTICS: INVENTING THE WHEEL; 1.3 THE POST-POLYMERASE CHAIN REACTION REVOLUTION; 1.4 MOLECULAR DIAGNOSTICS IN THE POST-GENOMIC ERA; 1.5 FUTURE PERSPECTIVES: WHAT LIES BEYOND; 1.5.1 Commercializing Molecular Diagnostics; 1.5.2 Personalized Medicine; 1.5.3 Personal Genomics; 1.6 CONCLUSIONS; REFERENCES; 2 -- Describing DNA Variants (Mutation Nomenclature); 2.1 INTRODUCTION.
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|a 2.2 HISTORY2.3 AUTHORIZATION; 2.4 DEFINITIONS; 2.4.1 Principles; 2.4.2 Reference Sequences; 2.4.3 Locus Reference Genomic Sequence; 2.4.4 Numbering Residues; 2.4.5 Coding Residues; 2.5 VARIANT DESCRIPTIONS; 2.5.1 Substitutions; 2.5.2 Deletions; 2.5.3 Duplications; 2.5.4 Insertions; 2.5.5 Indels (Deletion/Insertions); 2.5.6 Inversions; 2.5.7 Conversions; 2.5.8 Translocations; 2.5.9 Variability in Repeated Sequences; 2.5.10 Alleles; 2.5.11 RNA; 2.5.12 Protein; 2.5.12.1 Nonsense Variants; 2.5.12.2 Frame Shifts; 2.5.12.3 Extensions; 2.6 MUTALYZER; 2.7 CONCLUDING REMARKS; ACKNOWLEDGMENTS.
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|a 4.1 HISTORY OF THE POLYMERASE CHAIN REACTION4.2 PRINCIPLE OF REAL-TIME POLYMERASE CHAIN REACTION; 4.2.1 Quantitative Polymerase Chain Reaction Using Hydrolysis Probes; 4.2.2 Quantitative Polymerase Chain Reaction Using DNA Intercalating Dyes; 4.2.3 Quantitative Polymerase Chain Reaction Using Hybridization Probes; 4.2.4 Quantitative Polymerase Chain Reaction Using Primer Probes; 4.2.5 Real-Time Polymerase Chain Reaction Using Modified Nucleic Acids; 4.3 REAL-TIME THERMAL CYCLERS; 4.4 HOW DATA ARE OBTAINED; 4.5 HOW DATA ARE QUANTIFIED; 4.5.1 Standard Curve Method.
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|a 4.5.2 Comparative Threshold Cycle Method4.5.3 Pfaffl Method; 4.6 MULTIPLEX QUANTITATIVE POLYMERASE CHAIN REACTION; 4.7 APPLICATIONS OF QUANTITATIVE POLYMERASE CHAIN REACTION AND REVERSE TRANSCRIPTASE-QUANTITATIVE POLYMERASE CHAIN REACTION; 4.7.1 Clinical Microbiology; 4.7.2 Food and Industrial Microbiology; 4.7.3 Clinical Oncology; 4.7.3.1 Minimal Residual Disease; 4.7.3.2 Single Nucleotide Polymorphisms; 4.7.3.3 Chromosomal Translocations; 4.7.4 Gene Therapy; 4.7.5 Validation of ��-Omics'' Related Technologies; 4.7.6 Forensic Genetics.
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650 |
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|a Molecular diagnosis.
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650 |
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0 |
|a Genetic screening.
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650 |
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2 |
|a Genetic Testing
|0 (DNLM)D005820
|
650 |
|
6 |
|a Diagnostics mol�eculaires.
|0 (CaQQLa)201-0246199
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650 |
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6 |
|a D�epistage g�en�etique.
|0 (CaQQLa)201-0074873
|
650 |
|
7 |
|a Genetic screening
|2 fast
|0 (OCoLC)fst00940094
|
650 |
|
7 |
|a Molecular diagnosis
|2 fast
|0 (OCoLC)fst01024777
|
700 |
1 |
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|a Patrinos, George P.,
|e editor.
|
700 |
1 |
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|a Ansorge, Wilhelm,
|d 1944-
|e editor.
|
700 |
1 |
|
|a Danielson, Phillip B.,
|e editor.
|
776 |
0 |
8 |
|i Print version:
|t Molecular diagnostics.
|b Third edition.
|d Amsterdam ; Boston ; Heidelberg ; London ; New York ; Oxford ; Paris ; San Diego ; San Francisco ; Singapore ; Sydney ; Tokyo : Elsevier : Academic Press, [2016]
|z 9780128029718
|w (DLC) 2016960092
|w (OCoLC)966602362
|
856 |
4 |
0 |
|u https://sciencedirect.uam.elogim.com/science/book/9780128029718
|z Texto completo
|