Associated Papers
Truncating PKHD1 and PKD2 mutations alter energy metabolism.
Chumley P et al.
American Journal of Physiology. Renal Physiology, 2019
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Bergmann C et al.
Journal of the American Society of Nephrology : Jasn, 2011
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M et al.
Molecular Genetics and Metabolism, 2010
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM et al.
Journal of Medical Genetics, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Kidney International, 2005
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2005
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
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