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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: machova 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.
Chronic simultaneous exposure of common carp (Cyprinus carpio) from embryonic to juvenile stage to drospirenone and gestodene at low ng/L level caused intersex.
Šauer P, Tumová J, Steinbach C, Golovko O, Komen H, Maillot-Maréchal E, Máchová J, Grabic R, Aït-Aïssa S, Kocour Kroupová H. Šauer P, et al. Among authors: machova j. Ecotoxicol Environ Saf. 2020 Jan 30;188:109912. doi: 10.1016/j.ecoenv.2019.109912. Epub 2019 Nov 6. Ecotoxicol Environ Saf. 2020. PMID: 31706240
35 results