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Kidney International|September 12, 1998
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domainH H Lemmink, N V Knoers, L Károlyi, et al.
Journal of Medical Genetics|July 2, 2010
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndromeOlivia Boyer, Geneviève Benoit, Olivier Gribouval, et al.
American Journal of Physiology. Renal Physiology|January 3, 2019
Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidneyDan Shan, Gabriel Rezonzew, Sean Mullen, et al.
Kidney International|September 24, 2017
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies ConferenceSégolène Aymé, Detlef Bockenhauer, Simon Day, 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.
Biology of Sport|June 3, 2021
Prediction of muscle fiber composition using multiple repetition testingElliott C R Hall, Evgeny A Lysenko, Ekaterina A Semenova, et al.
American Journal of Human Genetics|March 19, 2002
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeatsLuiz F Onuchic, Laszlo Furu, Yasuyuki Nagasawa, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 21, 2026
KDOQI US Commentary on the KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD)Neera K Dahl, Phyllis August, Whitney Besse, et al.
American Journal of Human Genetics|June 19, 1998
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndromeR Vargas-Poussou, D Feldmann, M Vollmer, et al.
Journal of Strength and Conditioning Research|February 10, 2023
Collagen Gene Polymorphisms Previously Associated with Resistance to Soft-Tissue Injury Are More Common in Competitive Runners Than NonathletesHannah R Dines, Jennifer Nixon, Sarah J Lockey, et al.
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