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The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr. Thomasová D, et al. Among authors: reiterova j. Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38170106 Free PMC article.
IgA nephropathy in Czech patients--are we able reliably predict the outcome?
Maixnerova D, Neprasova M, Skibova J, Mokrisova J, Rysava R, Reiterova J, Jancova E, Merta M, Zadrazil J, Honsova E, Tesar V. Maixnerova D, et al. Among authors: reiterova j. Kidney Blood Press Res. 2014;39(6):555-62. doi: 10.1159/000368467. Epub 2014 Dec 14. Kidney Blood Press Res. 2014. PMID: 25531750 Free article.
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Garam N, Cserhalmi M, Prohászka Z, Szilágyi Á, Veszeli N, Szabó E, Uzonyi B, Iliás A, Aigner C, Schmidt A, Gaggl M, Sunder-Plassmann G, Bajcsi D, Brunner J, Dumfarth A, Cejka D, Flaschberger S, Flögelova H, Haris Á, Hartmann Á, Heilos A, Mueller T, Rusai K, Arbeiter K, Hofer J, Jakab D, Sinkó M, Szigeti E, Bereczki C, Janko V, Kelen K, Reusz GS, Szabó AJ, Klenk N, Kóbor K, Kojc N, Knechtelsdorfer M, Laganovic M, Lungu AC, Meglic A, Rus R, Kersnik Levart T, Macioniene E, Miglinas M, Pawłowska A, Stompór T, Podracka L, Rudnicki M, Mayer G, Rysava R, Reiterova J, Saraga M, Seeman T, Zieg J, Sládková E, Stajic N, Szabó T, Capitanescu A, Stancu S, Tisljar M, Galesic K, Tislér A, Vainumäe I, Windpessl M, Zaoral T, Zlatanova G, Józsi M, Csuka D. Garam N, et al. Among authors: reiterova j. Front Immunol. 2021 Sep 10;12:720183. doi: 10.3389/fimmu.2021.720183. eCollection 2021. Front Immunol. 2021. PMID: 34566977 Free PMC article.
60 results