Essential Medical Genetics. (Record no. 32214)
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| fixed length control field | 06501nam a22004573i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC7103494 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240724115620.0 |
| 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 | 9781118293713 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781405169745 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC7103494 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL7103494 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)1347026043 |
| 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 .C66 2011 |
| 082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616/.042 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Tobias, Edward S. |
| 245 10 - TITLE STATEMENT | |
| Title | Essential Medical Genetics. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Newark : |
| Name of producer, publisher, distributor, manufacturer | John Wiley & Sons, 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 | ©2011. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (345 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 | New York Academy of Sciences Series ; |
| Volume/sequential designation | v.22 |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Intro -- Title page -- Table of Contents -- Preface -- Acknowledgements -- How to get the best out of your textbook -- Part 1: Basic Principles -- Medical genetics in perspective -- Scientific basis of medical genetics -- Clinical applications of medical genetics -- The human genome -- Structure and organisation of the genome -- Gene identification -- The Human Genome Project -- Nucleic acid structure and function -- Nucleic acid structure -- Nucleic acid function -- Gene regulation -- DNA replication -- Mutation types, effects and nomenclature -- DNA analysis -- Basic methods -- Mutation detection -- Indirect mutant gene tracking -- Analysis of DNA length polymorphisms -- Analysis of single nucleotide polymorphisms -- Chromosomes -- Chromosome structure -- Chromosome analysis -- Chromosome heteromorphisms -- Chromosomes in other species -- Mitochondrial chromosomes -- Mitosis -- Gametogenesis -- Meiosis -- Spermatogenesis -- Oogenesis -- Fertilisation -- X-inactivation and dosage compensation -- Sex chromosome aberrations -- Sex determination and differentiation -- Genomic imprinting (parental imprinting) -- Chromosome aberrations -- Numerical aberrations -- Structural aberrations -- Cytogenetic and molecularm ethods for the detection of chromosomal aberrations -- Identification of the chromosomal origin of complex structural rearrangements -- Typical mendelian inheritance -- Introduction to autosomal single-gene inheritance -- Autosomal dominant inheritance -- Autosomal recessive inheritance -- Introduction to sex linked inheritance -- X-linked recessive inheritance -- X-linked dominant inheritance -- Y-linked inheritance (holandric inheritance) -- Atypical mendelian inheritance -- Genetic anticipation -- Pseudoautosomal inheritance -- Autosomal dominant inheritance with sex limitation -- Pseudodominant inheritance. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | X-linked dominant inheritance with male lethality -- Mosaicism -- Modifier genes and digenic inheritance -- Uniparental disomy -- Imprinting disorders -- Non-mendelian inheritance -- Multifactorial disorders -- Mitochondrial disorders -- Somatic cell genetic disorders -- Medical genetics in populations -- Selection for single-gene disorders -- Founder effect and genetic drift for single-gene disorders -- Altered mutation rate for single-gene disorders -- Linkage analysis and the International HapMap Project -- Human population evolution and migration -- Part 2: Clinical Applications -- Genetic assessment, genetic counselling and reproductive options -- Communication of advice -- Special points in counselling -- Prenatal diagnosis -- Amniocentesis -- Chorionic villus sampling -- Cordocentesis, fetal skin biopsy and fetal liver biopsy -- Ultrasonography -- Fetal cells in the maternal circulation -- Free fetal DNA and RNA detection -- Preimplantation genetic diagnosis -- Family history of cancer -- General principles -- Tumour suppressor genes -- Genes involved in DNA repair mechanisms -- Oncogenes -- Other cancer-related genes -- Genetic counselling aspects of cancer -- Common familial cancer predisposition syndromes -- Family history of common adult-onset disorder -- General principles -- Diabetes mellitus: common and monogenic forms -- Strong family history - typical mendelian disease -- Cystic fibrosis -- Duchenne and becker muscular dystrophies -- Neurofibromatosis type 1 -- Strong family history - other inheritance mechanisms -- Myotonic dystrophy -- Fragile X syndrome -- Mitochondrial disorder -- Imprinting-related disorder -- Chromosomal translocation -- Screening for disease and for carriers -- Prenatal screening -- Neonatal screening -- Carrier detection in the adult population -- Presymptomatic screening of adults. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Family history of one or more congenital malformations -- Aetiology -- Chromosomal disorders -- Neural tube defects -- Teratogenic effects -- Multiple malformation syndromes -- Part 3: Electronic databases - A user's guide -- Electronic databases - A user's guide -- Finding information regardings pecific conditions and names of associated genes -- Laboratories undertaking genetic testing -- Patient information and support groups -- Gene and protein specific sequence, structure, function and expression information -- Nucleotide sequences and human mutations -- Automatic primer design tools -- Displaying map data for genes and markers -- Online missense mutation analysis tools -- Computer aided syndrome diagnosis -- Professional genetics societies -- The human genome project: ethics and education -- Maintenance of gene frequencies -- Self - a ssessment -- APPENDIX 1: Odds, probabilities and applications of Bayes' theorem -- APPENDIX 2: Calculation of the coefficients of relationshipand inbreeding -- APPENDIX 3: Population genetics of single-gene disorders -- APPENDIX 4: Legal aspects -- Glossary -- Index. |
| 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 | Medical genetics. |
| 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 | Tobias, Edward S. |
| Title | Essential Medical Genetics |
| Place, publisher, and date of publication | Newark : John Wiley & Sons, Incorporated,c2011 |
| International Standard Book Number | 9781405169745 |
| 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 | New York Academy of Sciences Series |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=7103494">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=7103494</a> |
| Public note | Click to View |
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