| 000 -LEADER |
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03937nam a22004215i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-1-59745-039-3 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20161121230638.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
100301s2006 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9781597450393 |
| -- |
978-1-59745-039-3 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1007/978-1-59745-039-3 |
| Source of number or code |
doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RB1-214 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MMF |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MED067000 |
| Source |
bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
616.07 |
| Edition number |
23 |
| 245 10 - TITLE STATEMENT |
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| Title |
Genomic Disorders |
| Medium |
[electronic resource] : |
| Remainder of title |
The Genomic Basis of Disease / |
| Statement of responsibility, etc. |
edited by James R. Lupski, Pawel Stankiewicz. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
|---|
| Place of production, publication, distribution, manufacture |
Totowa, NJ : |
| Name of producer, publisher, distributor, manufacturer |
Humana Press, |
| Date of production, publication, distribution, manufacture, or copyright notice |
2006. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Other physical details |
online resource. |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
online resource |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS |
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| File type |
text file |
| Encoding format |
PDF |
| Source |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
The CMT1A Duplication -- Genomic Structure -- Alu Elements -- The Impact of LINE-1 Retro transposition on the Human Genome -- Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses -- Segmental Duplications -- Non-B DNA and Chromosomal Rearrangements -- Genetic Basis of Olfactory Deficits -- Genomic Organization and Function of Human Centromeres -- Genome Evolution -- Primate Chromosome Evolution -- Genome Plasticity in Evolution -- Genomic Rearrangements and Disease Traits -- The CMT1A Duplication and HNPP Deletion -- Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements -- Chromosome 22q11.2 Rearrangement Disorders -- Neurofibromatosis 1 -- Williams-Beuren Syndrome -- Sotos Syndrome -- X Chromosome Rearrangements -- Pelizaeus–Merzbacher Disease and Spastic Paraplegia Type 2 -- Y-Chromosomal Rearrangements and Azoospermia -- Inversion Chromosomes -- Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions -- inv dup(15) and inv dup(22) -- Mechanisms Underlying Neoplasia-Associated Genomic Rearrangements -- Functional Aspects of Genome Structure -- Recombination Hotspots in Nonallelic Homologous Recombination -- Position Effects -- Genomic Disorders: Modeling And Assays -- Chromosome-Engineered Mouse Models -- Array-CGH for the Analysis of Constitutional Genomic Rearrangements. |
| 520 ## - SUMMARY, ETC. |
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| Summary, etc. |
It is now abundantly clear that architectural features of the human genome can lead to DNA rearrangements that cause both disease and behavioral traits. In Genomic Disorders: The Genomic Basis of Disease, distinguished experts and pioneers in the field of genomics and genome rearrangements summarize and synthesize the tremendous amount of data now available in the postgenomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to evolution and explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection. Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be the underlying cause or basis of many human traits and disorders. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Pathology. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Medicine & Public Health. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Pathology. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Lupski, James R. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Stankiewicz, Pawel. |
| Relator term |
editor. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
|---|
| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Printed edition: |
| International Standard Book Number |
9781588295590 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
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| Uniform Resource Identifier |
http://dx.doi.org/10.1007/978-1-59745-039-3 |
| 912 ## - |
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| -- |
ZDB-2-SME |
