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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: steinman ti. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Hopp K, Cornec-Le Gall E, Senum SR, Te Paske IBAW, Raj S, Lavu S, Baheti S, Edwards ME, Madsen CD, Heyer CM, Ong ACM, Bae KT, Fatica R, Steinman TI, Chapman AB, Gitomer B, Perrone RD, Rahbari-Oskoui FF, Torres VE; HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study; Harris PC. Hopp K, et al. Among authors: steinman ti. Kidney Int. 2020 Feb;97(2):370-382. doi: 10.1016/j.kint.2019.08.038. Epub 2019 Oct 9. Kidney Int. 2020. PMID: 31874800 Free PMC article.
Expanded Imaging Classification of Autosomal Dominant Polycystic Kidney Disease.
Bae KT, Shi T, Tao C, Yu ASL, Torres VE, Perrone RD, Chapman AB, Brosnahan G, Steinman TI, Braun WE, Srivastava A, Irazabal MV, Abebe KZ, Harris PC, Landsittel DP; HALT PKD Consortium. Bae KT, et al. Among authors: steinman ti. J Am Soc Nephrol. 2020 Jul;31(7):1640-1651. doi: 10.1681/ASN.2019101121. Epub 2020 Jun 2. J Am Soc Nephrol. 2020. PMID: 32487558 Free PMC article.
The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD.
Lavu S, Vaughan LE, Senum SR, Kline TL, Chapman AB, Perrone RD, Mrug M, Braun WE, Steinman TI, Rahbari-Oskoui FF, Brosnahan GM, Bae KT, Landsittel D, Chebib FT, Yu AS, Torres VE; HALT PKD and CRISP Study Investigators; Harris PC. Lavu S, et al. Among authors: steinman ti. JCI Insight. 2020 Aug 6;5(15):e138724. doi: 10.1172/jci.insight.138724. JCI Insight. 2020. PMID: 32634120 Free PMC article.
Volume Progression and Imaging Classification of Polycystic Liver in Early Autosomal Dominant Polycystic Kidney Disease.
Bae KT, Tao C, Feldman R, Yu ASL, Torres VE, Perrone RD, Chapman AB, Brosnahan G, Steinman TI, Braun WE, Mrug M, Bennett WM, Harris PC, Srivastava A, Landsittel DP, Abebe KZ; CRISP and HALT PKD Consortium. Bae KT, et al. Among authors: steinman ti. Clin J Am Soc Nephrol. 2022 Mar;17(3):374-384. doi: 10.2215/CJN.08660621. Epub 2022 Feb 25. Clin J Am Soc Nephrol. 2022. PMID: 35217526 Free PMC article.
Health-related quality of life in patients with autosomal dominant polycystic kidney disease and CKD stages 1-4: a cross-sectional study.
Miskulin DC, Abebe KZ, Chapman AB, Perrone RD, Steinman TI, Torres VE, Bae KT, Braun W, Winklhofer FT, Hogan MC, Rahbari-Oskoui F, Moore CG, Flessner MF, Schrier RW; HALT-PKD Study. Miskulin DC, et al. Among authors: steinman ti. Am J Kidney Dis. 2014 Feb;63(2):214-26. doi: 10.1053/j.ajkd.2013.08.017. Epub 2013 Nov 1. Am J Kidney Dis. 2014. PMID: 24183837 Free PMC article. Clinical Trial.
Liver involvement in early autosomal-dominant polycystic kidney disease.
Hogan MC, Abebe K, Torres VE, Chapman AB, Bae KT, Tao C, Sun H, Perrone RD, Steinman TI, Braun W, Winklhofer FT, Miskulin DC, Rahbari-Oskoui F, Brosnahan G, Masoumi A, Karpov IO, Spillane S, Flessner M, Moore CG, Schrier RW. Hogan MC, et al. Among authors: steinman ti. Clin Gastroenterol Hepatol. 2015 Jan;13(1):155-64.e6. doi: 10.1016/j.cgh.2014.07.051. Epub 2014 Aug 9. Clin Gastroenterol Hepatol. 2015. PMID: 25111236 Free PMC article. Clinical Trial.
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC; HALT PKD and CRISP Investigators. Heyer CM, et al. Among authors: steinman ti. J Am Soc Nephrol. 2016 Sep;27(9):2872-84. doi: 10.1681/ASN.2015050583. Epub 2016 Jan 28. J Am Soc Nephrol. 2016. PMID: 26823553 Free PMC article.
Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial.
Irazabal MV, Abebe KZ, Bae KT, Perrone RD, Chapman AB, Schrier RW, Yu AS, Braun WE, Steinman TI, Harris PC, Flessner MF, Torres VE; HALT Investigators. Irazabal MV, et al. Among authors: steinman ti. Nephrol Dial Transplant. 2017 Nov 1;32(11):1857-1865. doi: 10.1093/ndt/gfw294. Nephrol Dial Transplant. 2017. PMID: 27484667 Free PMC article.
Effect of Statin Therapy on the Progression of Autosomal Dominant Polycystic Kidney Disease. A Secondary Analysis of the HALT PKD Trials.
Brosnahan GM, Abebe KZ, Rahbari-Oskoui FF, Patterson CG, Bae KT, Schrier RW, Braun WE, Chapman AB, Flessner MF, Harris PC, Perrone RD, Steinman TI, Torres VE; HALT PKD Investigators. Brosnahan GM, et al. Among authors: steinman ti. Curr Hypertens Rev. 2017;13(2):109-120. doi: 10.2174/1573402113666170427142815. Curr Hypertens Rev. 2017. PMID: 28460625 Free PMC article.
122 results