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Page 1
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: conlon p. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
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: conlon pj. 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.
Integrated use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools and Risk Prognostication.
Wolff CA, Aiello V, Elhassan EAE, Cristalli C, Lerario S, Paccapelo A, Ciurli F, Montanari F, Conti A, Benson K, Seri M, Brigl CB, Münster JS, Sciascia N, Kursch S, de Fallois J, La Manna G, Eckardt KU, Rank N, Popp B, Schönauer R, Conlon PJ, Capelli I, Halbritter J. Wolff CA, et al. Among authors: conlon pj. Clin J Am Soc Nephrol. 2024 Dec 20. doi: 10.2215/CJN.0000000625. Online ahead of print. Clin J Am Soc Nephrol. 2024. PMID: 39705090
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: conlon pj. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Torra R, et al. Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39673454
A Novel Role for FERM Domain-Containing Protein 3 in CKD.
Kennedy C, Doyle R, Gough O, Mcevoy C, Anallen SM, Hughes M, Sheng X, Crifo B, Andrews D, Gaffney A, Rodriguez J, Kennedy S, Dillon E, Crean D, Zhang W, Yi Z, Nair V, Susztak K, Hirschhorn J, Florez J, Groop PH, Sandholm N, Kretzler M, Mckay GJ, Mcknight AJ, Maxwell AP, Matallanas D, Dorman A, Martin F, Conlon PJ, Sadlier DM, Brennan E, Godson C; Genie Consortium. Kennedy C, et al. Among authors: conlon pj. Kidney360. 2024 Dec 1;5(12):1799-1812. doi: 10.34067/KID.0000000602. Epub 2024 Oct 16. Kidney360. 2024. PMID: 39450948 Free PMC article.
Impaired 11β-hydroxysteroid dehydrogenase type 2 activity in kidney disease disrupts 11-oxygenated androgen biosynthesis.
Tomkins M, McDonnell T, Cussen L, Sagmeister MS, Oestlund I, Shaheen F, Harper L, Hardy RS, Taylor AE, Gilligan LC, Arlt W, McIlroy M, de Freitas D, Conlon P, Magee C, Denton M, O'Seaghdha C, Snoep JL, Storbeck KH, Sherlock M, O'Reilly MW. Tomkins M, et al. Among authors: conlon p. J Clin Endocrinol Metab. 2024 Oct 9:dgae714. doi: 10.1210/clinem/dgae714. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39382395
Kidney failure amongst Irish Travellers.
O'Hara P, Alzayer H, Harris L, Gorey D, McMonagle E, Madden M, Elhassan E, Reddan D, Casserly L, Leavey S, Conlon P. O'Hara P, et al. Among authors: conlon p. Ir J Med Sci. 2024 Dec;193(6):3053-3058. doi: 10.1007/s11845-024-03769-4. Epub 2024 Aug 1. Ir J Med Sci. 2024. PMID: 39088162
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: conlon pj. 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.
502 results