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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: prytula a. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J. Groothoff JW, et al. Among authors: prytula a. Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5. Nat Rev Nephrol. 2023. PMID: 36604599 Review.
Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome.
Weber LT, Tönshoff B, Grenda R, Bouts A, Topaloglu R, Gülhan B, Printza N, Awan A, Battelino N, Ehren R, Hoyer PF, Novljan G, Marks SD, Oh J, Prytula A, Seeman T, Sweeney C, Dello Strologo L, Pape L. Weber LT, et al. Among authors: prytula a. Pediatr Transplant. 2021 May;25(3):e13955. doi: 10.1111/petr.13955. Epub 2020 Dec 30. Pediatr Transplant. 2021. PMID: 33378587
Rituximab in refractory nephrotic syndrome.
Prytuła A, Iijima K, Kamei K, Geary D, Gottlich E, Majeed A, Taylor M, Marks SD, Tuchman S, Camilla R, Ognjanovic M, Filler G, Smith G, Tullus K. Prytuła A, et al. Pediatr Nephrol. 2010 Mar;25(3):461-8. doi: 10.1007/s00467-009-1376-6. Epub 2009 Dec 23. Pediatr Nephrol. 2010. PMID: 20033225
ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium. De Rechter S, et al. Kidney Int Rep. 2019 May 29;4(9):1271-1284. doi: 10.1016/j.ekir.2019.05.015. eCollection 2019 Sep. Kidney Int Rep. 2019. PMID: 31517146 Free PMC article.
Improve in-depth immunological risk assessment to optimize genetic-compatibility and clinical outcomes in child and adolescent recipients of parental donor kidney transplants: protocol for the INCEPTION study.
Lim WH, Adams B, Alexander S, Bouts AHM, Claas F, Collins M, Cornelissen E, Dunckley H, de Jong H, D'Orsogna L, Francis A, Heidt S, Herman J, Holdsworth R, Kausman J, Khalid R, Kim JJ, Kim S, Knops N, Kosmoliaptsis V, Kramer C, Kuypers D, Larkins N, Palmer SC, Prestidge C, Prytula A, Sharma A, Shingde M, Taverniti A, Teixeira-Pinto A, Trnka P, Willis F, Wong D, Wong G. Lim WH, et al. Among authors: prytula a. BMC Nephrol. 2021 Dec 19;22(1):416. doi: 10.1186/s12882-021-02619-0. BMC Nephrol. 2021. PMID: 34923958 Free PMC article.
41 results