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Clinical Science (London, England : 1979)|November 26, 2013
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)Mark Glover, James S Ware, Amanda Henry, et al.
Journal of the American Society of Nephrology : JASN|July 25, 2000
Characterization of renal chloride channel (CLCN5) mutations in Dent's diseaseKatsusuke Yamamoto, Jeremy P D T Cox, Thomas Friedrich, 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.
Kidney International|April 5, 2003
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutationCoralie Bingham, Sian Ellard, William G van't Hoff, et al.
The Journal of Pediatrics|July 26, 2011
Cysteamine toxicity in patients with cystinosisMartine T P Besouw, Richard Bowker, Jean-Paul Dutertre, et al.
Kidney International|February 6, 2018
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathiesEmma J Ashton, Anne Legrand, Valerie Benoit, et al.
Clinical Journal of the American Society of Nephrology : CJASN|May 14, 2021
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical TrialYaacov Frishberg, Georges Deschênes, Jaap W Groothoff, et al.
The New England Journal of Medicine|March 31, 2021
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1Sander F Garrelfs, Yaacov Frishberg, Sally A Hulton, et al.
Human Molecular Genetics|June 18, 2015
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effectsFadil M Hannan, Sarah A Howles, Angela Rogers, et al.
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