Publications:

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition.

Plos One

Solazzo, Andrea A; Testa, Francesca F; Giovanella, Silvia S; Busutti, Marco M; Furci, Luciana L; Carrera, Paola P; Ferrari, Maurizio M; Ligabue, Giulia G; Mori, Giacomo G; Leonelli, Marco M; Cappelli, Gianni G; Magistroni, Riccardo R

Publication Date: 2018

Variant appearance in text: PKD1: 9240_9241delAT; Ala3082Cysfs*96

PubMed Link: 29338003

Variant Present in the following documents:

• Main text
• pone.0190430.pdf

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Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E

Publication Date: 2014-09

Variant appearance in text: PKD1: 9240_9241delAT; Ala3082fs

PubMed Link: 25333066

Variant Present in the following documents:

• Main text
• mgg30002-0412.pdf

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Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn

Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-05

Variant appearance in text: PKD1: 9240_9241delAT

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

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