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The ERA Registry Annual Report 2020: a summary.
Astley ME, Boenink R, Abd ElHafeez S, Trujillo-Alemán S, Arribas F, Åsberg A, Beckerman P, Bell S, Bouzas-Caamaño ME, Farnés JC, Galvão AA, Gjorgjievski N, Kelmendi VG, Guidotti R, Helve J, Idrizi A, Indriðason ÓS, Ioannou K, Kerschbaum J, Komissarov K, Castro de la Nuez P, Lassalle M, Nordio M, Arévalo OLR, Santiuste C, Seyahi N, Roblero MFS, Steenkamp R, Ten Dam MAGJ, Zakharova EV, Ziginskiene E, Bonthuis M, Stel VS, Ortiz A, Jager KJ, Kramer A. Astley ME, et al. Among authors: indridason os. Clin Kidney J. 2023 Apr 21;16(8):1330-1354. doi: 10.1093/ckj/sfad087. eCollection 2023 Aug. Clin Kidney J. 2023. PMID: 37529647 Free PMC article.
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Thorleifsson G, Holm H, Edvardsson V, Walters GB, Styrkarsdottir U, Gudbjartsson DF, Sulem P, Halldorsson BV, de Vegt F, d'Ancona FC, den Heijer M, Franzson L, Christiansen C, Alexandersen P, Rafnar T, Kristjansson K, Sigurdsson G, Kiemeney LA, Bodvarsson M, Indridason OS, Palsson R, Kong A, Thorsteinsdottir U, Stefansson K. Thorleifsson G, et al. Among authors: indridason os. Nat Genet. 2009 Aug;41(8):926-30. doi: 10.1038/ng.404. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561606
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, de Vegt F, d'Ancona FC, den Heijer M, Wetzels JF, Franzson L, Rafnar T, Kristjansson K, Bjornsdottir US, Eyjolfsson GI, Kiemeney LA, Kong A, Palsson R, Thorsteinsdottir U, Stefansson K. Gudbjartsson DF, et al. Among authors: indridason os. PLoS Genet. 2010 Jul 29;6(7):e1001039. doi: 10.1371/journal.pgen.1001039. PLoS Genet. 2010. PMID: 20686651 Free PMC article.
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. Among authors: indridason os. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.
113 results