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Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani, Gioia; Sorgente, Anna; Alfano, Massimo; Pipitone, Giovanni Battista; Boeri, Luca; Pozzi, Edoardo; Belladelli, Federico; Pederzoli, Filippo; Ferrara, Anna Maria; Montorsi, Francesco; Moles, Anna; Carrera, Paola; Salonia, Andrea; Casari, Giorgio.
Afiliação
  • Quarantani G; Genome-Phenome Relationship Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Sorgente A; Genome-Phenome Relationship Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Alfano M; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Pipitone GB; Genomics for Human Disease Diagnosis Unit and Lab of Clinical Genomics, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Boeri L; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Pozzi E; Department of Urology, Foundation IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Belladelli F; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Pederzoli F; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Ferrara AM; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Montorsi F; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Moles A; Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy.
  • Carrera P; Vita-Salute San Raffaele University, Milan, Italy.
  • Salonia A; CNR Institute of Biochemistry and Cell Biology, Rome, Italy.
  • Casari G; Genomics for Human Disease Diagnosis Unit and Lab of Clinical Genomics, IRCCS Ospedale San Raffaele, Milan, Italy.
PLoS One ; 18(8): e0288336, 2023.
Article em En | MEDLINE | ID: mdl-37540677

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligospermia / Azoospermia / Infertilidade Masculina Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligospermia / Azoospermia / Infertilidade Masculina Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália