X Chromosome-Linked CNVs in Male Infertility: Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance

Autor: Chianese, Chiara, Gunning, Adam C., Giachini, Claudia, Daguin, Fabrice, Balercia, Giancarlo, Ars, Elisabet, Giacco, Deborah Lo, Ruiz-Castañé, Eduardo, Forti, Gianni, Krausz, Csilla, Universitat Autònoma de Barcelona

Publikováno v: PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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PLoS ONE, Vol 9, Iss 6, p e97746 (2014)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS ONE

Introduction: 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 arr

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X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.

Autor: Chianese C; Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy; Molecular Biology Laboratory, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain., Gunning AC; Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy., Giachini C; Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy., Daguin F; Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy., Balercia G; Division of Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, Polytechnic University of Marche, Ancona, Italy., Ars E; Molecular Biology Laboratory, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain., Lo Giacco D; Molecular Biology Laboratory, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain; Andrology Service, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain., Ruiz-Castañé E; Andrology Service, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain., Forti G; Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy., Krausz C; Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy; Andrology Service, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.

Publikováno v: PloS one [PLoS One] 2014 Jun 10; Vol. 9 (6), pp. e97746. Date of Electronic Publication: 2014 Jun 10 (Print Publication: 2014).