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Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, Laštůvková J, Rašková D, Seeman P. Safka Brozkova D, et al. Among authors: lastuvkova j. Clin Genet. 2020 Dec;98(6):548-554. doi: 10.1111/cge.13839. Epub 2020 Sep 27. Clin Genet. 2020. PMID: 32860223
Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome.
Seeman P, Čejnová V, Černá Š, Rennerová L, Trková M, Kofer J, Laštůvková J. Seeman P, et al. Among authors: lastuvkova j. Clin Genet. 2022 Sep;102(3):244-245. doi: 10.1111/cge.14175. Epub 2022 Jun 21. Clin Genet. 2022. PMID: 35726688
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P, Indrakova J, Savige J, Kuhnova P, Tvrda P, Cerna D, Hilscherova S, Kudrejova M, Polendova D, Jaklova R, Langova M, Jahnova H, Lastuvkova J, Dusek J, Gut J, Vlckova M, Solarova P, Kreckova G, Kantorova E, Soukalova J, Slavkovsky R, Zapletalova J, Tichy T, Thomasova D. Plevova P, et al. Among authors: lastuvkova j. Front Med (Lausanne). 2023 Feb 8;10:1096869. doi: 10.3389/fmed.2023.1096869. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844206 Free PMC article.
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.
Šafka Brožková D, Laštůvková J, Machalová E, Lisoňová J, Trková M, Seeman P. Šafka Brožková D, et al. Among authors: lastuvkova j. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1681-4. doi: 10.1016/j.ijporl.2012.08.006. Epub 2012 Aug 27. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22951369
16 results