Associated Papers
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
27499327 (PubMed )
Supplement: srep30850-s2.xlsx › Sheet1
Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.
Freedman BS et al.
Journal of the American Society of Nephrology : Jasn, 2013
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bataille S et al.
Bmc Nephrology, 2011
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Glazov EA et al.
Plos Genetics, 2011
21455487 (PubMed )
Supplement: pgen.1002027.s002.pdf
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › nci-h661_f40r3
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
Reed B et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008
Select a paper to view details