scholarly journals Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

2008 ◽  
Vol 18 (5) ◽  
pp. 683-694 ◽  
Author(s):  
I. Cusco ◽  
R. Corominas ◽  
M. Bayes ◽  
R. Flores ◽  
N. Rivera-Brugues ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Segmental Duplications ◽  
Susceptibility Factor ◽  
Number Variation

scholarly journals Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH

Genomics ◽  
2006 ◽  
Vol 88 (2) ◽  
pp. 152-162 ◽  
Author(s):  
Cecilia de Bustos ◽  
Teresita Díaz de Ståhl ◽  
Arkadiusz Piotrowski ◽  
Kiran K. Mantripragada ◽  
Patrick G. Buckley ◽  
...  
Keyword(s):  
High Resolution ◽  
Copy Number Variation ◽  
Copy Number ◽  
Human Population ◽  
Array Cgh ◽  
Segmental Duplications ◽  
Number Variation ◽  
Normal Human

scholarly journals Segmental Duplications and Copy-Number Variation in the Human Genome

2005 ◽  
Vol 77 (1) ◽  
pp. 78-88 ◽  
Author(s):  
Andrew J. Sharp ◽  
Devin P. Locke ◽  
Sean D. McGrath ◽  
Ze Cheng ◽  
Jeffrey A. Bailey ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Human Genome ◽  
Copy Number ◽  
Segmental Duplications ◽  
Number Variation

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

2006 ◽  
Vol 120 (2) ◽  
pp. 270-284 ◽  
Author(s):  
Violaine Goidts ◽  
David N. Cooper ◽  
Lluis Armengol ◽  
Werner Schempp ◽  
Jeffrey Conroy ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Human Genome ◽  
Copy Number ◽  
Structural Variation ◽  
Segmental Duplications ◽  
Number Variation ◽  
Complex Patterns

M1006 Copy Number Variation: A Potential Susceptibility Factor for Biliary Atresia

2009 ◽  
Vol 136 (5) ◽  
pp. A-831
Author(s):  
Melissa Leyva-Vega ◽  
Brian Thiel ◽  
Elizabeth B. Rand ◽  
Hakon Hakonarson ◽  
Nancy B. Spinner ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Biliary Atresia ◽  
Copy Number ◽  
Susceptibility Factor ◽  
Number Variation

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact
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