A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

(2013) E. Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Kidney Volume and Functional Outcomes in Autosomal Dominant Polycystic Kidney Disease

(2012) A. B. Chapman et al.   Clinical Journal of the American Society of Nephrology

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

(2012) Marie-Pierre Audrézet et al.   HUMAN MUTATION

Estimating Glomerular Filtration Rate from Serum Creatinine and Cystatin C

(2012) Lesley A. Inker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

(2011) C. Bergmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Determinants of Renal Disease Variability in ADPKD

(2010) Peter C. Harris et al.   ADVANCES IN CHRONIC KIDNEY DISEASE

Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD

(2010) M. Liu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

(2010) M. Vujic et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

(2009) Sandro Rossetti et al.   KIDNEY INTERNATIONAL

Unified Ultrasonographic Diagnostic Criteria for Polycystic Kidney Disease

(2008) F. A. Belibi et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

(2008) Y. Pei et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY