scholarly journals Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

PLoS Biology ◽  
2010 ◽  
Vol 8 (11) ◽  
pp. e1000543 ◽  
Author(s):  
Guénola Ricard ◽  
Jessica Molina ◽  
Jacqueline Chrast ◽  
Wenli Gu ◽  
Nele Gheldof ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Mouse Models ◽  
Copy Number ◽  
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

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients

2016 ◽  
Vol 117 (3) ◽  
pp. 383-388 ◽  
Author(s):  
Ellen Geets ◽  
Doreen Zegers ◽  
Sigri Beckers ◽  
An Verrijken ◽  
Guy Massa ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Mutation Analysis ◽  
Copy Number ◽  
Number Variation
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