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494 results

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Page 1
Polycystic kidney disease.
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Bergmann C, et al. Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. Nat Rev Dis Primers. 2018. PMID: 30523303 Free PMC article. Review.
Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main for …
Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney
Autosomal Dominant Polycystic Kidney Disease: A Review.
Chebib FT, Hanna C, Harris PC, Torres VE, Dahl NK. Chebib FT, et al. JAMA. 2025 May 20;333(19):1708-1719. doi: 10.1001/jama.2025.0310. JAMA. 2025. PMID: 40126492 Free PMC article. Review.
IMPORTANCE: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and is the most common inherited kidney disorder worldwide. ...Approximately 50% of individuals with ADPKD require kidney
IMPORTANCE: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney
KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.
Torres VE, Ahn C, Barten TRM, Brosnahan G, Cadnapaphornchai MA, Chapman AB, Cornec-Le Gall E, Drenth JPH, Gansevoort RT, Harris PC, Harris T, Horie S, Liebau MC, Liew M, Mallett AJ, Mei C, Mekahli D, Odland D, Ong ACM, Onuchic LF, Pei YP, Perrone RD, Rangan GK, Rayner B, Torra R, Balk EM, Gordon CE, Earley A, Mustafa RA, Devuyst O. Torres VE, et al. Kidney Int. 2025 Feb;107(2):234-254. doi: 10.1016/j.kint.2024.07.010. Kidney Int. 2025. PMID: 39848746 Free article.
The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the first KDIGO guideline on this subject. Its scope includ …
The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment …
Autosomal dominant polycystic kidney disease.
Torres VE, Harris PC, Pirson Y. Torres VE, et al. Lancet. 2007 Apr 14;369(9569):1287-1301. doi: 10.1016/S0140-6736(07)60601-1. Lancet. 2007. PMID: 17434405 Review.
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. ...
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. ...
Tolvaptan in patients with autosomal dominant polycystic kidney disease.
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS; TEMPO 3:4 Trial Investigators. Torres VE, et al. N Engl J Med. 2012 Dec 20;367(25):2407-18. doi: 10.1056/NEJMoa1205511. Epub 2012 Nov 3. N Engl J Med. 2012. PMID: 23121377 Free PMC article. Clinical Trial.
BACKGROUND: The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. ...The primary outcome was the annual rate of change in the total kidney volume. Sequential secondary end po …
BACKGROUND: The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, an …
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium. Rossetti S, et al. J Am Soc Nephrol. 2007 Jul;18(7):2143-60. doi: 10.1681/ASN.2006121387. Epub 2007 Jun 20. J Am Soc Nephrol. 2007. PMID: 17582161
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes, duplication of PKD1, and a high level of unclassified variants (UCV). ...
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and all …
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Cornec-Le Gall E, Torres VE, Harris PC. Cornec-Le Gall E, et al. J Am Soc Nephrol. 2018 Jan;29(1):13-23. doi: 10.1681/ASN.2017050483. Epub 2017 Oct 16. J Am Soc Nephrol. 2018. PMID: 29038287 Free PMC article. Review.
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liv …
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal …
Polycystic Kidney Disease Diet: What is Known and What is Safe.
Chebib FT, Nowak KL, Chonchol MB, Bing K, Ghanem A, Rahbari-Oskoui FF, Dahl NK, Mrug M. Chebib FT, et al. Clin J Am Soc Nephrol. 2024 May 1;19(5):664-682. doi: 10.2215/CJN.0000000000000326. Epub 2023 Sep 20. Clin J Am Soc Nephrol. 2024. PMID: 37729939 Free PMC article. Review.
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by kidney cyst formation and progressive kidney function loss. ...
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by kidney cyst formation and p …
Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Yang H, Sieben CJ, Schauer RS, Harris PC. Yang H, et al. Adv Kidney Dis Health. 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. Adv Kidney Dis Health. 2023. PMID: 38097330 Free PMC article. Review.
Polycystic kidney diseases are a group of monogenically inherited disorders characterized by cyst development in the kidney with defects in primary cilia function central to pathogenesis. Autosomal dominant polycystic kidney disease (ADPK
Polycystic kidney diseases are a group of monogenically inherited disorders characterized by cyst development in the
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Rossetti S, Hopp K, Sikkink RA, Sundsbak JL, Lee YK, Kubly V, Eckloff BW, Ward CJ, Winearls CG, Torres VE, Harris PC. Rossetti S, et al. J Am Soc Nephrol. 2012 May;23(5):915-33. doi: 10.1681/ASN.2011101032. Epub 2012 Mar 1. J Am Soc Nephrol. 2012. PMID: 22383692 Free PMC article.
Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1-32 as six pseudogenes on chromosome 16, the high level of allelic heterogeneity, and the cost of Sanger sequencing com …
Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The duplic …
494 results