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The Journal of Clinical Investigation|October 16, 2012
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severityKatharina Hopp, Christopher J Ward, Cynthia J Hommerding, et al.Journal of the American Society of Nephrology : JASN|March 28, 2006
Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunctionSurya M Nauli, Sandro Rossetti, Robert J Kolb, et al.American Journal of Physiology. Renal Physiology|January 13, 2017
Parallel microarray profiling identifies ErbB4 as a determinant of cyst growth in ADPKD and a prognostic biomarker for disease progressionAndrew J Streets, Tajdida A Magayr, Linghong Huang, et al.Medicine|March 9, 2006
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)Magdalena Adeva, Mounif El-Youssef, Sandro Rossetti, et al.Human Mutation|March 24, 2009
Sharing data between LSDBs and central repositoriesJohan T den Dunnen, Rolf H Sijmons, Paal S Andersen, et al.Journal of the American Society of Nephrology : JASN|March 3, 2012
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencingSandro Rossetti, Katharina Hopp, Robert A Sikkink, et al.Nature Genetics|March 29, 2002
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like proteinChristopher J Ward, Marie C Hogan, Sandro Rossetti, et al.Journal of the American Society of Nephrology : JASN|April 19, 2002
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal diseaseSandro Rossetti, Sarah Burton, Lana Strmecki, et al.Clinical Journal of the American Society of Nephrology : CJASN|September 8, 2011
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasisCarla G Monico, Sandro Rossetti, Ruth Belostotsky, et al.Human Molecular Genetics|April 16, 2011
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisKatharina Hopp, Christina M Heyer, Cynthia J Hommerding, et al.Pageof 6