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Lancet (London, England)|July 5, 2003
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotypeSandro Rossetti, Dominique Chauveau, Vickie Kubly, et al.Kidney International|January 24, 2009
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney diseaseSandro Rossetti, Vickie J Kubly, Mark B Consugar, et al.Plos One|February 6, 2013
A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1Brittney-Shea Herbert, Brenda R Grimes, Wei Min Xu, et al.Journal of the American Society of Nephrology : JASN|May 1, 2010
Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver diseaseMarie C Hogan, Tetyana V Masyuk, Linda J Page, et al.Human Genomics|November 23, 2016
Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKDRita M C de Almeida, Sherry G Clendenon, William G Richards, et al.Kidney International|June 14, 2013
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 familiesBinu M Paul, Mark B Consugar, Moonnoh Ryan Lee, et al.Journal of the American Society of Nephrology : JASN|June 22, 2007
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney diseaseSandro Rossetti, Mark B Consugar, Arlene B Chapman, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|February 8, 2005
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney diseaseMark B Consugar, Sarah A Anderson, Sandro Rossetti, et al.Human Mutation|April 27, 2004
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Fabian Küpper, et al.Human Genetics|January 29, 2011
Germline PKHD1 mutations are protective against colorectal cancerChristopher J Ward, Yanhong Wu, Ruth A Johnson, et al.Pageof 6