Publications:

Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.

Kidney International Reports

Izzi, Claudia C; Dordoni, Chiara C; Delbarba, Elisa E; Mazza, Cinzia C; Savoldi, Gianfranco G; Econimo, Laura L; Cortinovis, Roberta R; Zeni, Letizia L; Martin, Eva E; Alberici, Federico F; Scolari, Francesco F

Publication Date: 2022-04

Variant appearance in text: PKD1: Gly1944Arg

PubMed Link: 35497784

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: Gly1944Arg

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850.pdf

View BVdb publication page