Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)-Reference-Cited by-同舟云学术

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

Published:2016-08 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Carrera Paola,Calzavara Silvia,Magistroni Riccardo,den Dunnen Johan T.,Rigo Francesca,Stenirri Stefania,Testa Francesca,Messa Piergiorgio,Cerutti Roberta,Scolari Francesco,Izzi Claudia,Edefonti Alberto,Negrisolo Susanna,Benetti Elisa,Alibrandi Maria Teresa Sciarrone,Manunta Paolo,Boletta Alessandra,Ferrari Maurizio

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep30850.pdf

Reference30 articles.

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2. Bergmann, C. & Zerres, K. Early manifestations of polycystic kidney disease. The Lancet 369, 2157 (2007).

3. Bergmann, C., Ortiz Bruchle, N., Frank, V., Rehder, H. & Zerres, K. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N. Engl. J. Med. 359, 318–319 (2008).

4. Rossetti, S. et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 75, 848–855 (2009).

5. Vujic, M. et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J. Am. Soc. Nephrol. 21, 1097–1102 (2010).

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