Genetic Diagnoses. (Record no. 60456)
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| 000 -LEADER | |
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| fixed length control field | 06943nam a22004813i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC3019723 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240729124125.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d | |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu|||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240724s2011 xx o ||||0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781614700272 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781613248669 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC3019723 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL3019723 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (CaPaEBR)ebr10671288 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)847626729 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | MiAaPQ |
| Language of cataloging | eng |
| Description conventions | rda |
| -- | pn |
| Transcribing agency | MiAaPQ |
| Modifying agency | MiAaPQ |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RB155.6 -- .G4613 2012eb |
| 082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616/.042 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Sarma, Radha Jonnalagedda. |
| 245 10 - TITLE STATEMENT | |
| Title | Genetic Diagnoses. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Hauppauge : |
| Name of producer, publisher, distributor, manufacturer | Nova Science Publishers, Incorporated, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2011. |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | ©2012. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (216 pages) |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 490 1# - SERIES STATEMENT | |
| Series statement | Genetics - Research and Issues |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Intro -- GENETIC DIAGNOSES -- GENETIC DIAGNOSES -- Contents -- Preface -- Chapter I Defining a Cause: Result Priority between Preeclampsia and Thyroid Function -- Abstract -- TSH in Preeclampsia -- FT3/FT4 in Preeclampsia -- T3/T4 in Preeclampsia -- Further Observations -- Thyroid Function as a Link between Preeclampsia and Eythyroid Sick Syndrome (ESS) -- Hypo-, Hyper-Thyroidism and Preeclampsia: Defining a Cause - Result Axis -- Anti-Thyroid Antibodies and Preeclampsia -- Preeclampsia and the Thyroid Function of the Infant -- References -- Chapter II Molecular Diagnosis of Thalassemia -- Abstract -- 1. Background -- 1.1. Epidemiology -- 1.2. Pathophysiology -- 1.2.1. Hemoglobin Component and Types -- 1.2.2. α-Thalassemia -- 1.2.2.1. α-Globin Gene Cluster -- 1.2.2.2. Classifications of α-Thalassemia -- 1.2.2.3. Molecular Etiology of α-Thalassemia -- 1.2.3. β-Thalassemia -- 1.2.3.1. β-Globin Gene Cluster -- 1.2.3.2. Classifications of β-Thalassemia -- 1.2.3.3. Molecular Etiology of β-Thalassemia -- 2. Laboratory Testing of Thalassemia -- 2.1. Hematologic and Biochemical Screening -- 2.1.1. Complete Blood Count (CBC) -- 2.1.2. Electrophoretic Analysis -- 2.1.3. High Performance Liquid Chromatography (HPLC) -- 2.1.4. Staining of HbH inclusion bodies -- 2.2. Molecular Methods -- 2.2.1. Southern Blot Analysis -- 2.2.2. Gap PCR for Deletions -- 2.2.3. Dot-Blot and Reverse Dot-Blot Hybridization -- 2.2.4. PCR - Restriction Fragment Length Polymorphism (RFLP) Analysis -- 2.2.5. Denaturing Gradient Gel Electrophoresis (DGGE) -- 2.2.6. Amplification Refractory Mutation System (ARMS) -- 2.2.7. Direct DNA Sequencing -- 2.2.8. Minisequencing -- 2.2.9. Multiplex Ligation-Dependent Probe Amplification (MLPA) -- 2.2.10. Methods for Detection of α-Globin Gene Triplications and Quadruplications -- 2.2.11. Real-Time PCR. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 2.2.12. High Resolution Melting Analysis -- 2.2.13. Microarray: High-Throughput Approaches in Molecular Diagnostics -- 3. Prenatal and Preimplantation Genetic Diagnosis of Thalassemia -- Conclusion -- References -- Chapter III Fuzzy Logic and the Least Squares Method in Diagnosis Problem Solving -- Abstract -- 1. Introduction -- 2. Diagnosis Problem Statement -- 3. Fuzzy Model of Diagnosis -- 3.1. Diagnostic Approximator Based on Fuzzy Relations -- 3.2. Diagnostic Approximator Based on Fuzzy Rules -- 4. Solving the Least Squares Equations -- 4.1. Genetic Optimization of the Null Diagnostic Solution -- 4.2. Genetic Search for the Diagnostic Solution Set -- 4.2.1. Diagnosis Based on Fuzzy Relations -- 4.2.2. Diagnosis Based on Fuzzy Rules -- 5. Fuzzy Model Tuning -- 6. Computer Simulations -- 6.1. Approximation Based on Fuzzy Relations -- 6.2. Approximation Based on Fuzzy Rules -- 7. Example of Fuel Pump Diagnosis -- 8. Example of Hydraulic Elevator Diagnosis -- Conclusion -- References -- Chapter IV Molecular Diagnosis of Spinocerbellar Ataxias -- Abstract -- Introduction -- Polyglutamine (polyQ) Expansions (Coding Expansion SCAs) -- Non-Coding Expansion SCAs -- FXTAS: Fragile X-Associated Tremor/Ataxia Syndrome -- Genetic Diagnosis of SCAS -- Genetic Counseling -- Molecular Analysis of SCAs -- According to Our Experience -- Conclusion -- Acknowledgment -- References -- Chapter V Genetics of Left Ventricular Noncompaction -- References -- Chapter VI A Genetic Diagnosis to Type 1 Diabetes? -- Abstract -- Introduction -- Genetic Predisposing Factors -- 1. The MHC Class II Genes -- 2. The Insulin Gene (INS) -- 3. The CTLA4 (Cytotoxic T-Lymphocyte Associated 4) Gene -- 4. The PTPN22 Gene -- 5. The Interleukin-2 Alpha Chain Receptor Gene (IL2RA) -- 6. The IFIH1/MDA5 Gene -- 7. Other Genes -- a. The CAPSL and IL7R Genes -- b. KIAA0350/CLEC16A. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | c. STAT4 -- Genetic Diagnosis in t1d -- Genetic Variability: The Asian Case -- Therapeutic Strategies in T1D -- 1. Treatments -- 2. Prevention and Genetics -- Conclusion -- References -- Chapter VII State of the Heart on Genetics of Congenital Heart Diseases: Molecular Basis, Genetic Diagnosis and Counselling -- Abstract -- Introduction -- 1. Embryogenesis of the Heart -- 2. Techniques Used for the Discovery of the Genetic Basis of Cardiovascular and Congenital Heart Diseases -- Linkage Analysis -- Candidate Gene Association -- RNA Expression Profiling -- Resequencing -- 3. Genes Involved in Heart Development -- TFAP2B -- Tbx1 -- NKX2-5, 2-6 -- ZFPM2/FOG2 -- GATA-4 -- 4. Non-Inherited Factors Involved in CHD -- 5. Pre- and Post-Natal Diagnosis -- 6. Congenital Heart Diseases Detected by Genetic Tests -- 6.1. Digeorge Syndrome -- Genetic Test -- Genetic Counseling -- Williams-Beuren Syndrome -- Genetics of Williams-Beuren Syndrome -- Genetic Test -- Genetic Counseling -- Alagille Syndrome -- Genetics of Alagille Syndrome -- Genetic Test -- Genetic Counseling -- Noonan Syndrome -- Genetics of Noonan Syndrome -- Genetic Test -- Genetic Counseling -- Holt-Oram Syndrome -- Genetics of Holt-Oram Syndrome -- Genetic Test -- Genetic Counseling -- Turner's Syndrome -- Down Syndrome -- Nonsyndromic Single-Gene Disorders -- 7. Genetic Counselling -- Appendix I -- Text Abbreviations -- References -- Index -- Blank Page. |
| 588 ## - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Description based on publisher supplied metadata and other sources. |
| 590 ## - LOCAL NOTE (RLIN) | |
| Local note | Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Human chromosome abnormalities -- Diagnosis. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular biology. |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Main entry heading | Sarma, Radha Jonnalagedda |
| Title | Genetic Diagnoses |
| Place, publisher, and date of publication | Hauppauge : Nova Science Publishers, Incorporated,c2011 |
| International Standard Book Number | 9781613248669 |
| 797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN) | |
| Corporate name or jurisdiction name as entry element | ProQuest (Firm) |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Genetics - Research and Issues |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3019723">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=3019723</a> |
| Public note | Click to View |
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