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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani, Vilma; Bin, Sofia; Graziano, Claudio; Capelli, Irene; Minardi, Raffaella; Aiello, Valeria; Ambrosini, Enrico; Cristalli, Carlotta Pia; Mattiaccio, Alessandro; Pariali, Milena; De Fanti, Sara; Faletra, Flavio; Grosso, Enrico; Cantone, Rachele; Mancini, Elena; Mencarelli, Francesca; Pasini, Andrea; Wischmeijer, Anita; Sciascia, Nicola; Seri, Marco; La Manna, Gaetano.
Affiliation
  • Mantovani V; Medical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Bin S; Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
  • Graziano C; Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
  • Capelli I; Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Minardi R; Medical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Aiello V; Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Ambrosini E; Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
  • Cristalli CP; Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Mattiaccio A; Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Pariali M; Medical Genetics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • De Fanti S; Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
  • Faletra F; Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Grosso E; Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
  • Cantone R; Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy.
  • Mancini E; Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
  • Mencarelli F; Medical Genetics Unit, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
  • Pasini A; Medical Genetics Unit, AOU Città della Salute e della Scienza, Turin, Italy.
  • Wischmeijer A; Medical Genetics Unit, AOU Città della Salute e della Scienza, Turin, Italy.
  • Sciascia N; Nephrology, Dialysis and Hypertension Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • Seri M; Pediatrics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
  • La Manna G; Pediatrics Unit, S. Orsola-Malpighi University Hospital, Bologna, Italy.
Front Genet ; 11: 464, 2020.
Article in En | MEDLINE | ID: mdl-32457805
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Language: En Journal: Front Genet Year: 2020 Type: Article Affiliation country: Italy
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Language: En Journal: Front Genet Year: 2020 Type: Article Affiliation country: Italy