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7 p, 268.2 KB X Chromosome-Linked CNVs in Male Infertility : Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance / Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Gunning, Adam C. (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Giachini, Claudia (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Daguin, Fabrice (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Balercia, Giancarlo (Polytechnic University of Marche, Ancona, Italy) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Giacco, Deborah Lo (Institut d'Investigació Biomèdica Sant Pau) ; Ruiz-Castañé, Eduardo (Institut d'Investigació Biomèdica Sant Pau) ; Forti, Gianni (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Spermatogenesis is a highly complex process involving several thousand genes, only a minority of which have been studied in infertile men. In a previous study, we identified a number of Copy Number Variants (CNVs) by high-resolution array-Comparative Genomic Hybridization (a-CGH) analysis of the X chromosome, including 16 patient-specific X chromosome-linked gains. [...]
2014 - 10.1371/journal.pone.0097746
PloS one, Vol. 9 (june 2014)  

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