Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling

0 avg rating
( 0 ratings by GoodReads )
 
9780124046313: Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling

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. It 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. It 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. It includes side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques.

"synopsis" may belong to another edition of this title.

Review:

"This volume systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants.deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment."--Anticancer Research 34, 2014 "Liehr.surveys the current knowledge of variation in the human genome, including the increasing number of alterations that seem to have no phenotypic consequences - a phenomenon once thought rare if not impossible. Focusing on cytogenetically visible copy number variants (CG-CNVs), he considers what the norm is, inheritance, formation, types, and their role on genetic diagnostics and counseling."--Reference & Research Book News, December 2013

"About this title" may belong to another edition of this title.

Top Search Results from the AbeBooks Marketplace

1.

Liehr, Thomas
Published by Elsevier Science Publishing Co Inc, United States (2014)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Hardcover Quantity Available: 1
Seller
The Book Depository
(London, United Kingdom)
Rating
[?]

Book Description Elsevier Science Publishing Co Inc, United States, 2014. Hardback. Book Condition: New. 231 x 155 mm. Language: English . Brand New Book. 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. It 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. It 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. It includes side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques. Bookseller Inventory # AA59780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
61.07
Convert Currency

Add to Basket

Shipping: FREE
From United Kingdom to U.S.A.
Destination, Rates & Speeds

2.

Liehr, Thomas
Published by Elsevier Science Publishing Co Inc, United States (2014)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Hardcover Quantity Available: 1
Seller
The Book Depository US
(London, United Kingdom)
Rating
[?]

Book Description Elsevier Science Publishing Co Inc, United States, 2014. Hardback. Book Condition: New. 231 x 155 mm. Language: English . Brand New Book. 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. It 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. It 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. It includes side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques. Bookseller Inventory # AA59780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
64.26
Convert Currency

Add to Basket

Shipping: FREE
From United Kingdom to U.S.A.
Destination, Rates & Speeds

3.

Liehr, Thomas
Published by Academic Pr (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Hardcover Quantity Available: 2
Seller
Revaluation Books
(Exeter, United Kingdom)
Rating
[?]

Book Description Academic Pr, 2013. Hardcover. Book Condition: Brand New. 1st edition. 220 pages. 9.00x6.25x0.75 inches. In Stock. Bookseller Inventory # __0124046312

More Information About This Seller | Ask Bookseller a Question

Buy New
58.33
Convert Currency

Add to Basket

Shipping: 6
From United Kingdom to U.S.A.
Destination, Rates & Speeds

4.

Liehr, Thomas
Published by Academic Press (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Hardcover Quantity Available: 1
Seller
Herb Tandree Philosophy Books
(Stroud, GLOS, United Kingdom)
Rating
[?]

Book Description Academic Press, 2013. Hardback. Book Condition: NEW. 9780124046313 This listing is a new book, a title currently in-print which we order directly and immediately from the publisher. Bookseller Inventory # HTANDREE01197823

More Information About This Seller | Ask Bookseller a Question

Buy New
60
Convert Currency

Add to Basket

Shipping: 8
From United Kingdom to U.S.A.
Destination, Rates & Speeds

5.

Liehr, Thomas
Published by Academic Press (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Hardcover Quantity Available: 1
Seller
Herb Tandree Philosophy Books
(Stroud, GLOS, United Kingdom)
Rating
[?]

Book Description Academic Press, 2013. Hardback. Book Condition: NEW. 9780124046313 This listing is a new book, a title currently in-print which we order directly and immediately from the publisher. Bookseller Inventory # HTANDREE0893903

More Information About This Seller | Ask Bookseller a Question

Buy New
60
Convert Currency

Add to Basket

Shipping: 8
From United Kingdom to U.S.A.
Destination, Rates & Speeds

6.

Liehr, Thomas
Published by Oxford Elsevier LTD Nov 2013 (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Quantity Available: 1
Rating
[?]

Book Description Oxford Elsevier LTD Nov 2013, 2013. Buch. Book Condition: Neu. 236x156x20 mm. Neuware - 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. 199 pp. Englisch. Bookseller Inventory # 9780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
72.66
Convert Currency

Add to Basket

Shipping: 10.15
From Germany to U.S.A.
Destination, Rates & Speeds

7.

Liehr, Thomas
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Hardcover Quantity Available: 1
Seller
AussieBookSeller
(SILVERWATER, NSW, Australia)
Rating
[?]

Book Description 2013. Hardcover. Book Condition: New. 152mm x 15mm x 236mm. Hardcover. Given technology-driven FISH, aCGH approaches have yet to reach the much-touted promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis.Shipping may be from our Sydney, NSW warehouse or from our UK or US warehouse, depending on stock availability. 199 pages. 0.499. Bookseller Inventory # 9780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
62.23
Convert Currency

Add to Basket

Shipping: 22.10
From Australia to U.S.A.
Destination, Rates & Speeds

8.

Liehr, Thomas
Published by Oxford Elsevier LTD Nov 2013 (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Quantity Available: 1
Seller
Rheinberg-Buch
(Bergisch Gladbach, Germany)
Rating
[?]

Book Description Oxford Elsevier LTD Nov 2013, 2013. Buch. Book Condition: Neu. 236x156x20 mm. Neuware - 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. 199 pp. Englisch. Bookseller Inventory # 9780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
72.66
Convert Currency

Add to Basket

Shipping: 14.49
From Germany to U.S.A.
Destination, Rates & Speeds

9.

Liehr, Thomas
Published by Oxford Elsevier LTD Nov 2013 (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Quantity Available: 1
Seller
Agrios-Buch
(Bergisch Gladbach, Germany)
Rating
[?]

Book Description Oxford Elsevier LTD Nov 2013, 2013. Buch. Book Condition: Neu. 236x156x20 mm. Neuware - 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. 199 pp. Englisch. Bookseller Inventory # 9780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
72.66
Convert Currency

Add to Basket

Shipping: 14.49
From Germany to U.S.A.
Destination, Rates & Speeds

10.

Liehr, Thomas
Published by Oxford Elsevier LTD Nov 2013 (2013)
ISBN 10: 0124046312 ISBN 13: 9780124046313
New Quantity Available: 1
Seller
AHA-BUCH GmbH
(Einbeck, Germany)
Rating
[?]

Book Description Oxford Elsevier LTD Nov 2013, 2013. Buch. Book Condition: Neu. 236x156x20 mm. Neuware - 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. 199 pp. Englisch. Bookseller Inventory # 9780124046313

More Information About This Seller | Ask Bookseller a Question

Buy New
72.66
Convert Currency

Add to Basket

Shipping: 24.95
From Germany to U.S.A.
Destination, Rates & Speeds

There are more copies of this book

View all search results for this book