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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: 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.
In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Štěrbová K, Vlčková M, Hansíková H, Sebroňová V, Sedláčková L, Pavlíček P, Laššuthová P. Štěrbová K, et al. Among authors: vlckova m. Neurogenetics. 2022 Jan;23(1):67-68. doi: 10.1007/s10048-021-00677-y. Epub 2021 Nov 27. Neurogenetics. 2022. PMID: 34837145 No abstract available.
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG. Basak A, et al. Among authors: vlckova m. J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4. J Clin Invest. 2015. PMID: 25938782 Free PMC article. Clinical Trial.
Polygenic burden in focal and generalized epilepsies.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Leu C, et al. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Brain. 2019. PMID: 31608925 Free PMC article.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Among authors: vlckova m. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.
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.
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
95 results