Rasková D - Search Results

1

DNA diagnosis and clinical manifestations of autosomal dominant polycystic kidney disease.

Merta M, Stekrová J, Zidovská J, Vorsilková M, Walterová J, Kapras J, Alánová M, Rasková D, Gaillyová R, Archmanová E, Rysavá R. Merta M, et al. Among authors: raskova d. Folia Biol (Praha). 1997;43(5):201-4. Folia Biol (Praha). 1997. PMID: 9595261

2

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

3

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

Seeman P, Malíková M, Rasková D, Bendová O, Groh D, Kubálková M, Sakmaryová I, Seemanová E, Kabelka Z. Seeman P, et al. Among authors: raskova d. Clin Genet. 2004 Aug;66(2):152-7. doi: 10.1111/j.1399-0004.2004.00283.x. Clin Genet. 2004. PMID: 15253766

4

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Pourová R, Janousek P, Jurovcík M, Dvoráková M, Malíková M, Rasková D, Bendová O, Leonardi E, Murgia A, Kabelka Z, Astl J, Seeman P. Pourová R, et al. Among authors: raskova d. Ann Hum Genet. 2010 Jul;74(4):299-307. doi: 10.1111/j.1469-1809.2010.00581.x. Ann Hum Genet. 2010. PMID: 20597900

5

Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.

Seeman P, Bendová O, Rasková D, Malíková M, Groh D, Kabelka Z. Seeman P, et al. Among authors: raskova d. Ann Hum Genet. 2005 Jan;69(Pt 1):9-14. doi: 10.1046/j.1529-8817.2003.00120.x. Ann Hum Genet. 2005. PMID: 15638823

6

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: raskova d. Clin Genet. 2020 Dec;98(6):548-554. doi: 10.1111/cge.13839. Epub 2020 Sep 27. Clin Genet. 2020. PMID: 32860223

7

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: raskova d. 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

8

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. Among authors: raskova d. 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

9

[Personal experience with genetic study of the hearing-impaired].

Rasková D, Seemanová E, Chýleová L. Rasková D, et al. Cesk Pediatr. 1992 Jul;47(7):395-7. Cesk Pediatr. 1992. PMID: 1394537 Czech.

10

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.

Safka Brozkova D, Uhrova Meszarosova A, Lassuthova P, Varga L, Staněk D, Borecká S, Laštůvková J, Čejnová V, Rašková D, Lhota F, Gašperíková D, Seeman P. Safka Brozkova D, et al. Among authors: raskova d. Genes (Basel). 2021 May 1;12(5):684. doi: 10.3390/genes12050684. Genes (Basel). 2021. PMID: 34062854 Free PMC article.

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