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20160812084635.0 |
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130919t20142014ne af ob 001 0 eng d |
| 040 ## - FUENTE DE CATALOGACIÓN |
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| Original cataloging agency |
E7B |
| Language of cataloging |
eng |
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rda |
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pn |
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E7B |
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NT |
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NEH |
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OCLCQ |
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857713146 |
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858229427 |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| International Standard Book Number |
9780124046849 |
| Qualifying information |
(electronic bk.) |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| International Standard Book Number |
0124046843 |
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(electronic bk.) |
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| International Standard Book Number |
1299833195 |
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(ebk) |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| International Standard Book Number |
9781299833197 |
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(ebk) |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| Canceled/invalid ISBN |
9780124046313 |
| 020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS |
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| Canceled/invalid ISBN |
0124046312 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) |
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| OCLC library identifier |
DEBSZ |
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399543473 |
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NLGGC |
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370257812 |
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NZ1 |
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15341971 |
| 050 #4 - SIGNATURA TOPOGRÁFICA DE LA BIBLIOTECA DEL CONGRESO |
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| Classification number |
QH430 |
| Item number |
.L54 2014eb |
| 082 04 - NÚMERO DE CLASIFICACIÓN DECIMAL DEWEY |
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| Classification number |
616.042 |
| 049 ## - LOCAL HOLDINGS (OCLC) |
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| Holding library |
TEFA |
| 100 1# - ASIENTO PRINCIPAL--NOMBRE PERSONAL |
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| Personal name |
Liehr, Thomas, |
| Dates associated with a name |
1965- |
| Relator term |
author. |
| 245 10 - MENCIÓN DE TITULO |
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| Title |
Benign and pathological chromosomal imbalances |
| Medium |
[recurso electrónico] : |
| Remainder of title |
microscopic and submicroscopic copy number variations (CNVs) in genetics and counseling / |
| Statement of responsibility, etc. |
Thomas Liehr. |
| 246 14 - FORMA VARIANTE DEL TITULO |
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| Title proper/short title |
Benign & pathological chromosomal imbalances |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
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| Place of production, publication, distribution, manufacture |
Amsterdam : |
| Name of producer, publisher, distributor, manufacturer |
Elsevier/AP, |
| Date of production, publication, distribution, manufacture, or copyright notice |
[2014] |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
|---|
| Date of production, publication, distribution, manufacture, or copyright notice |
2014 |
| 300 ## - DESCRIPCIÓN FÍSICA |
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| Extent |
1 online resource (xix, 199 pages, 5 unnumbered pages of plates) : |
| Other physical details |
illustrations (some color) |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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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 |
| 504 ## - NOTA DE BIBLIOGRAFÍA, ETC. |
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| Bibliography, etc |
Includes bibliographical references and index. |
| 588 0# - SOURCE OF DESCRIPTION NOTE |
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| Source of description note |
Online resource; title from PDF title page (ebrary, viewed September 19, 2013). |
| 520 ## - NOTA DE RESUMEN, ETC. |
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| Summary, etc. |
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development. Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate. Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques. |
| 505 0# - NOTA DE CONTENIDO |
|---|
| Formatted contents note |
Front Cover; Benign and Pathological Chromosomal Imbalances -- Microscopic and SubmicroscopicCopy Number Variations (CNVs) inGenetics and Counseling; Copyright; DISCLAIMER; CONTENTS; BIOGRAPHY; ABBREVIATIONS; FOREWORD; ACKNOWLEDGMENTS; Chapter 1 -- Introduction; 1.1. THE PROBLEM; 1.2. FREQUENCY AND CHROMOSOMAL ORIGIN OF CYTOGENETICALLY VISIBLE COPY NUMBER VARIANTS (CG-CNVS) WITHOUT CLINICAL CONSEQUENCES; 1.3. PRACTICAL MEANING OF CG-CNVS IN DIAGNOSTICS AND RESEARCH; 1.4. SUBMICROSCOPIC CNVS (MG-CNVS); Chapter 2 -- CG-CNVs: What Is the Norm?; 2.1. ACROCENTRIC CHROMOSOMES' SHORT ARM VARIANTS. |
| 505 8# - NOTA DE CONTENIDO |
|---|
| Formatted contents note |
2.2. VARIANTS OF THE CENTROMERIC REGIONS2.3. VARIANTS OF NONCENTROMERIC HETEROCHROMATIN; 2.4. UNBALANCED CHROMOSOME ABNORMALITIES (UBCAS) WITHOUT CLINICAL CONSEQUENCES; 2.5. SMALL SUPERNUMERARY MARKER CHROMOSOMES (SSMCS); 2.6. EUCHROMATIC VARIANTS (EVS); 2.7. GONOSOMAL DERIVED CHROMATIN; 2.8. MG-CNVS; Chapter 3 -- Inheritance of CG-CNVs; 3.1. FAMILIAL CG-CNVS; 3.2. DE NOVO CG-CNVS; 3.3. MG-CNVS; Chapter 4 -- Formation of CG-CNVs; 4.1. ACROCENTRIC CHROMOSOMES' SHORT-ARM VARIANTS; 4.2. VARIANTS OF THE CENTROMERIC REGIONS; 4.3. VARIANTS OF NONCENTROMERIC HETEROCHROMATIN. |
| 505 8# - NOTA DE CONTENIDO |
|---|
| Formatted contents note |
4.4. UNBALANCED CHROMOSOME ABNORMALITIES (UBCAS)4.5. SMALL SUPERNUMERARY MARKER CHROMOSOMES (SSMCS); 4.6. EUCHROMATIC VARIANTS (EVS); 4.7. GONOSOMAL-DERIVED CHROMATIN; 4.8. MG-CNVS; Chapter 5 -- Types of CG-CNVs; 5.1. HETEROCHROMATIC CG-CNVS; 5.2. EUCHROMATIC CG-CNVS; 5.3. SUBMICROSCOPIC CNVS (MG-CNVS); Chapter 6 -- CG-CNVs in Genetic Diagnostics and Counseling; 6.1. CG-CNVS IN DIAGNOSTICS; 6.2. CG-CNVS AND MG-CNVS IN REPORTING AND GENETIC COUNSELING; Chapter 7 -- Online Resources; 7.1. CG-CNVS; 7.2. MG-CNVS; Appendix -- Summary of CG-CNVs by Chromosome; A.1 CHROMOSOME 1; A.2 CHROMOSOME 2; A.3 CHROMOSOME 3. |
| 505 8# - NOTA DE CONTENIDO |
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| Formatted contents note |
A.4 CHROMOSOME 4A.5 CHROMOSOME 5; A.6 CHROMOSOME 6; A.7 CHROMOSOME 7; A.8 CHROMOSOME 8; A.9 CHROMOSOME 9; A.10 CHROMOSOME 10; A.11 CHROMOSOME 11; A.12 CHROMOSOME 12; A.13 CHROMOSOME 13; A.14 CHROMOSOME 14; A.15 CHROMOSOME 15; A.16 CHROMOSOME 16; A.17 CHROMOSOME 17; A.18 CHROMOSOME 18; A.19 CHROMOSOME 19; A.20 CHROMOSOME 20; A.21 CHROMOSOME 21; A.22 CHROMOSOME 22; A.23 X-CHROMOSOME; A.24 Y-CHROMOSOME; A.25 SHORT ANALYSIS OF THE SUMMARY OF CG-CNVS BY CHROMOSOME; REFERENCES; INDEX; Color plates. |
| 596 ## - |
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19 |
| 650 #0 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
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| Topical term or geographic name as entry element |
Genetics. |
| 650 #0 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
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| Topical term or geographic name as entry element |
Variation (Biology) |
| 650 12 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
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| Topical term or geographic name as entry element |
DNA Copy Number Variations. |
| 650 22 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
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| Topical term or geographic name as entry element |
Chromosome Aberrations. |
| 650 22 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
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| Topical term or geographic name as entry element |
Genetic Counseling. |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
HEALTH & FITNESS |
| General subdivision |
Diseases |
| -- |
General. |
| Source of heading or term |
bisacsh |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
MEDICAL |
| General subdivision |
Clinical Medicine. |
| Source of heading or term |
bisacsh |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
MEDICAL |
| General subdivision |
Diseases. |
| Source of heading or term |
bisacsh |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
MEDICAL |
| General subdivision |
Evidence-Based Medicine. |
| Source of heading or term |
bisacsh |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
MEDICAL |
| General subdivision |
Internal Medicine. |
| Source of heading or term |
bisacsh |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
Genetics. |
| Source of heading or term |
fast |
| Authority record control number |
(OCoLC)fst00940117 |
| 650 #7 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO |
|---|
| Topical term or geographic name as entry element |
Variation (Biology) |
| Source of heading or term |
fast |
| Authority record control number |
(OCoLC)fst01164189 |
| 655 #4 - |
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| -- |
Electronic books. |
| 655 #0 - |
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| -- |
Electronic books. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Print version: |
| Main entry heading |
Liehr, Thomas, 1965- |
| Title |
Benign and pathological chromosomal imbalances. |
| Place, publisher, and date of publication |
Amsterdam : Elsevier/AP, [2014] |
| International Standard Book Number |
9780124046313 |
| Record control number |
(OCoLC)800037737 |
| 856 40 - LOCALIZACIÓN Y ACCESO ELECTRÓNICOS |
|---|
| Public note |
Libro electrónico |
| Materials specified |
ScienceDirect |
| Uniform Resource Identifier |
<a href="http://148.231.10.114:2048/login?url=http://www.sciencedirect.com/science/book/9780124046313">http://148.231.10.114:2048/login?url=http://www.sciencedirect.com/science/book/9780124046313</a> |
| 942 ## - TIPO DE MATERIAL (KOHA) |
|---|
| Koha item type |
Libro Electrónico |
