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Did you mean holly maillard (3 results)?
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Lancet. 2024 Mar 30;403(10433):1279-1289. doi: 10.1016/S0140-6736(23)02843-X. Epub 2024 Mar 13. Lancet. 2024. PMID: 38492578 Free article.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: mabillard h. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA. Al Riyami MS, et al. Among authors: mabillard h. Mol Genet Genomic Med. 2023 Sep;11(9):e2201. doi: 10.1002/mgg3.2201. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204080 Free PMC article.
UMOD and you! Explaining a rare disease diagnosis.
Mabillard H, Olinger E, Sayer JA. Mabillard H, et al. J Rare Dis (Berlin). 2022;1(1):4. doi: 10.1007/s44162-022-00005-4. Epub 2022 Dec 7. J Rare Dis (Berlin). 2022. PMID: 36569465 Free PMC article. Review.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Among authors: mabillard h. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Olinger E, Phakdeekitcharoen P, Caliskan Y, Orr S, Mabillard H, Pickles C, Tse Y, Wood K; Genomics England Research Consortium; Sayer JA. Olinger E, et al. Among authors: mabillard h. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):109-120. doi: 10.1002/ajmg.c.31964. Epub 2022 Mar 15. Am J Med Genet C Semin Med Genet. 2022. PMID: 35289079 Free PMC article.
Case Report: Renal potassium wasting in SARS-CoV-2 infection.
Mabillard H, Tedd H, Speight A, Duncan C, Price DA, Sayer JA. Mabillard H, et al. F1000Res. 2020 Jun 30;9:659. doi: 10.12688/f1000research.24621.2. eCollection 2020. F1000Res. 2020. PMID: 33299549 Free PMC article.
Electrolyte Disturbances in SARS-CoV-2 Infection.
Mabillard H, Sayer JA. Mabillard H, et al. F1000Res. 2020 Jun 10;9:587. doi: 10.12688/f1000research.24441.2. eCollection 2020. F1000Res. 2020. PMID: 33093945 Free PMC article. Review.
15 results