Trková M - Search Results

1

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: trkova m. Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi: 10.1089/gtmb.2017.0155. Genet Test Mol Biomarkers. 2018. PMID: 29425068

2

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.

Šafka Brožková D, Laštůvková J, Štěpánková H, Krůtová M, Trková M, Myška P, Seeman P. Šafka Brožková D, et al. Among authors: trkova m. Clin Genet. 2012 Dec;82(6):579-82. doi: 10.1111/j.1399-0004.2011.01817.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097895

3

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

Borgulová I, Soldatova I, Putzová M, Malíková M, Neupauerová J, Marková SP, Trková M, Seeman P. Borgulová I, et al. Among authors: trkova m. J Hum Genet. 2018 Jul;63(7):803-810. doi: 10.1038/s10038-018-0444-9. Epub 2018 Apr 10. J Hum Genet. 2018. PMID: 29636544

4

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: trkova m. 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

5

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Šafka Brožková D, Paulasová Schwabová J, Neupauerová J, Sabová J, Krůtová M, Peřina V, Trková M, Laššuthová P, Seeman P. Šafka Brožková D, et al. Among authors: trkova m. J Hum Genet. 2017 Mar;62(3):431-435. doi: 10.1038/jhg.2016.148. Epub 2016 Dec 22. J Hum Genet. 2017. PMID: 28003645

6

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: trkova m. Clin Genet. 2022 Sep;102(3):244-245. doi: 10.1111/cge.14175. Epub 2022 Jun 21. Clin Genet. 2022. PMID: 35726688

7

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P. Trkova M, et al. Am J Med Genet A. 2016 Jul;170(7):1843-8. doi: 10.1002/ajmg.a.37685. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256633

8

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.

Uhrova Meszarosova A, Safka Brozkova D, Vyhnalek M, Mazanec R, Lastuvkova J, Trkova M, Bittoova M, Soldatova I, Seeman P. Uhrova Meszarosova A, et al. Among authors: trkova m. J Clin Neurosci. 2019 Jan;59:337-339. doi: 10.1016/j.jocn.2018.10.094. Epub 2018 Nov 13. J Clin Neurosci. 2019. PMID: 30446360

9

Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.

Vlckova M, Trkova M, Zemanova Z, Hancarova M, Novotna D, Raskova D, Puchmajerova A, Drabova J, Zmitkova Z, Tan Y, Sedlacek Z. Vlckova M, et al. Among authors: trkova m. Cytogenet Genome Res. 2012;136(1):15-20. doi: 10.1159/000334709. Epub 2011 Dec 8. Cytogenet Genome Res. 2012. PMID: 22156400

10

TP53 gene mutations are rare in nondysplastic Barrett's esophagus.

Novotna K, Trkova M, Pazdro A, Smejkal M, Soukupova A, Kodetova D, Smejkal P, Sedlacek Z. Novotna K, et al. Among authors: trkova m. Dig Dis Sci. 2006 Jan;51(1):110-3. doi: 10.1007/s10620-006-3093-3. Dig Dis Sci. 2006. PMID: 16416221

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