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Page 1
Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.
Sumerauer D, Krskova L, Vicha A, Misove A, Mamatjan Y, Jencova P, Vlckova M, Slamova L, Vanova K, Liby P, Taborsky J, Koblizek M, Klubal R, Kyncl M, Zadeh G, Stary J, Zamecnik J, Ramaswamy V, Zapotocky M. Sumerauer D, et al. Among authors: vlckova m. Acta Neuropathol. 2020 Apr;139(4):795-797. doi: 10.1007/s00401-019-02118-5. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897644 No abstract available.
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: vlckova m. 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.
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K, Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z. Mejstríková E, et al. Among authors: vlckova m. Pediatrics. 2012 Feb;129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23. Pediatrics. 2012. PMID: 22271700
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M. Tesner P, et al. Among authors: vlckova m. Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018. Mol Cytogenet. 2018. PMID: 29760779 Free PMC article.
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
Benova B, Sanders MWCB, Uhrova-Meszarosova A, Belohlavkova A, Hermanovska B, Novak V, Stanek D, Vlckova M, Zamecnik J, Aronica E, Braun KPJ, Koeleman BPC, Jansen FE, Krsek P. Benova B, et al. Among authors: vlckova m. Eur J Paediatr Neurol. 2021 Jan;30:88-96. doi: 10.1016/j.ejpn.2020.12.001. Epub 2021 Jan 6. Eur J Paediatr Neurol. 2021. PMID: 33461085
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B, Hermanovska B, Krskova L, Zamecnik J, Vlckova M, Balascakova M, Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P. Straka B, et al. Among authors: vlckova m. Neurol Genet. 2022 Sep 27;8(5):e200032. doi: 10.1212/NXG.0000000000200032. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36324633 Free PMC article.
A progressive KY myopathy could be caused by a missense pathogenic variant.
Uhrova-Meszarosova A, Vlckova M, Rennerova L, Haberlova J, Zamecnik J, Seeman P, Safka-Brozkova D. Uhrova-Meszarosova A, et al. Among authors: vlckova m. Clin Genet. 2023 Jun;103(6):723-725. doi: 10.1111/cge.14302. Epub 2023 Jan 28. Clin Genet. 2023. PMID: 36683559 No abstract available.
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P. Straka B, et al. Among authors: vlckova m. Eur J Paediatr Neurol. 2023 Nov;47:80-87. doi: 10.1016/j.ejpn.2023.09.009. Epub 2023 Oct 5. Eur J Paediatr Neurol. 2023. PMID: 37812946
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.
Straka B, Koblížek M, Splítková B, Valkovičová R, Krsková L, Kalinová M, Vlčková M, Zámečník J, Laššuthová P, Sedláčková L, Staněk D, Maulisová A, Tichý M, Kynčl M, Kršek P. Straka B, et al. Among authors: vlckova m. Epilepsia Open. 2024 Feb;9(1):424-431. doi: 10.1002/epi4.12863. Epub 2023 Dec 14. Epilepsia Open. 2024. PMID: 37943122 Free PMC article.
98 results