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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.
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Tesner P, Vlckova M, Drabova J, Vseticka J, Klimova A, Lastuvkova J, Zidovska J, Kremlikova Pourova R, Hancarova M, Sedlacek Z, Kocarek E. Tesner P, et al. Among authors: lastuvkova j. Cytogenet Genome Res. 2018;154(4):187-195. doi: 10.1159/000488790. Epub 2018 May 9. Cytogenet Genome Res. 2018. PMID: 29739006 Free article.
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P. Čada Z, et al. Among authors: lastuvkova j. Eur Arch Otorhinolaryngol. 2019 Dec;276(12):3353-3358. doi: 10.1007/s00405-019-05649-5. Epub 2019 Sep 24. Eur Arch Otorhinolaryngol. 2019. PMID: 31552524
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
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
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Safka Brozkova D, Varga L, Uhrova Meszarosova A, Slobodova Z, Skopkova M, Soltysova A, Ficek A, Jencik J, Lastuvkova J, Gasperikova D, Seeman P. Safka Brozkova D, et al. Among authors: lastuvkova j. Orphanet J Rare Dis. 2020 Aug 26;15(1):222. doi: 10.1186/s13023-020-01508-3. Orphanet J Rare Dis. 2020. PMID: 32847582 Free PMC article.
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