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Page 1
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr. Kidd KO, et al. Among authors: vrbacka a. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.
Elhassan EAE, Kmochová T, Benson KA, Fennelly NK, Barešová V, Kidd K, Doyle B, Dorman A, Morrin MM, Kyne NC, Vyleťal P, Hartmannová H, Hodaňová K, Sovová J, Mušálková D, Vrbacká A, Přistoupilová A, Živný J, Svojšová K, Radina M, Stránecký V, Loginov D, Pompach P, Novák P, Vaníčková Z, Hansíková H, Rajnochová-Bloudíčková S, Viklický O, Hůlková H, Cavalleri GL, Hnízda A, Bleyer AJ, Kmoch S, Conlon PJ, Živná M. Elhassan EAE, et al. Among authors: vrbacka a. Kidney Int Rep. 2024 Apr 15;9(7):2209-2226. doi: 10.1016/j.ekir.2024.04.031. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081747 Free PMC article.
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ. Kidd KO, et al. Among authors: vrbacka a. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309887. doi: 10.1101/2024.07.03.24309887. medRxiv. 2024. Update in: BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1 PMID: 39006416 Free PMC article. Updated. Preprint.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ Sr, Kmoch S. Kmochová T, et al. Among authors: vrbacka a. Kidney Int. 2024 Apr;105(4):799-811. doi: 10.1016/j.kint.2023.11.021. Epub 2023 Dec 12. Kidney Int. 2024. PMID: 38096951
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: vrbacka a. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Vylet'al P, Kidd K, Ainsworth HC, Springer D, Vrbacká A, Přistoupilová A, Hughey RP, Alper SL, Lennon N, Harrison S, Harden M, Robins V, Taylor A, Martin L, Howard K, Bitar I, Langefeld CD, Barešová V, Hartmannová H, Hodaňová K, Zima T, Živná M, Kmoch S, Bleyer AJ. Vylet'al P, et al. Among authors: vrbacka a. Am J Nephrol. 2021;52(5):378-387. doi: 10.1159/000515810. Epub 2021 Jun 7. Am J Nephrol. 2021. PMID: 34098564 Free PMC article.
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K, Vylet'al P, Schaeffer C, Olinger E, Živná M, Hodaňová K, Robins V, Johnson E, Taylor A, Martin L, Izzi C, Jorge SC, Calado J, Torres RJ, Lhotta K, Steubl D, Gale DP, Gast C, Gombos E, Ainsworth HC, Chen YM, Almeida JR, de Souza CF, Silveira C, Raposeiro R, Weller N, Conlon PJ, Murray SL, Benson KA, Cavalleri GL, Votruba M, Vrbacká A, Amoroso A, Gianchino D, Caridi G, Ghiggeri GM, Divers J, Scolari F, Devuyst O, Rampoldi L, Kmoch S, Bleyer AJ. Kidd K, et al. Among authors: vrbacka a. Kidney Int Rep. 2020 Jul 3;5(9):1472-1485. doi: 10.1016/j.ekir.2020.06.029. eCollection 2020 Sep. Kidney Int Rep. 2020. PMID: 32954071 Free PMC article.
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.
Jedlickova I, Pristoupilova A, Hulkova H, Vrbacka A, Stranecky V, Hruba E, Jesina P, Honzik T, Hrdlicka I, Fremuth J, Pivovarcikova K, Bitar I, Matej R, Kmoch S, Sikora J. Jedlickova I, et al. Among authors: vrbacka a. J Neuropathol Exp Neurol. 2020 Oct 1;79(10):1065-1071. doi: 10.1093/jnen/nlaa070. J Neuropathol Exp Neurol. 2020. PMID: 32827029
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S. Živná M, et al. Among authors: vrbacka a. J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2. J Am Soc Nephrol. 2018. PMID: 29967284 Free PMC article.