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Showing results for
dana brozkova
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Dana Baroková
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.
Am J Hum Genet. 2018.
PMID: 29499166
Free PMC article.
Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.
Weber ML, Hsin HY, Kalay E, BroŽková DS, Shimizu T, Bayram M, Deeley K, Küchler EC, Forella J, Ruff TD, Trombetta VM, Sencak RC, Hummel M, Briseño-Ruiz J, Revu SK, Granjeiro JM, Antunes LS, Antunes LA, Abreu FV, Costa MC, Tannure PN, Koruyucu M, Patir A, Poletta FA, Mereb JC, Castilla EE, Orioli IM, Marazita ML, Ouyang H, Jayaraman T, Seymen F, Vieira AR.
Weber ML, et al. Among authors: brozkova ds.
BMC Med Genet. 2014 Jul 15;15:81. doi: 10.1186/1471-2350-15-81.
BMC Med Genet. 2014.
PMID: 25023176
Free PMC article.
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Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
Brožková DŠ, Posádka J, Laššuthová P, Mazanec R, Haberlová J, Sišková D, Sakmaryová I, Neupauerová J, Seeman P.
Brožková DŠ, et al.
Mol Med Rep. 2013 Dec;8(6):1779-84. doi: 10.3892/mmr.2013.1730. Epub 2013 Oct 14.
Mol Med Rep. 2013.
PMID: 24126688
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STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
Marková SP, Brožková DŠ, Laššuthová P, Mészárosová A, Krůtová M, Neupauerová J, Rašková D, Trková M, Staněk D, Seeman P.
Marková SP, et al. Among authors: brozkova ds.
Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi: 10.1089/gtmb.2017.0155.
Genet Test Mol Biomarkers. 2018.
PMID: 29425068
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Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P.
Schwabova J, et al. Among authors: brozkova ds.
J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25.
J Neurogenet. 2013.
PMID: 23883322
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Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
Brozková D, Mazanec R, Haberlová J, Sakmaryová I, Subrt I, Seeman P.
Brozková D, et al.
Genet Test Mol Biomarkers. 2010 Feb;14(1):3-7. doi: 10.1089/gtmb.2009.0093.
Genet Test Mol Biomarkers. 2010.
PMID: 20039784
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Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
Brožková D, Mazanec R, Rychlý Z, Haberlová J, Böhm J, Staněk J, Plevová P, Lisoňová J, Sabová J, Sakmaryová I, Seeman P.
Brožková D, et al.
Muscle Nerve. 2011 Nov;44(5):819-22. doi: 10.1002/mus.22189.
Muscle Nerve. 2011.
PMID: 22006697
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