Kousal B - Search Results

1

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P. Kousal B, et al. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 Free article.

2

[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].

Kousal B, Chakarova F, Black GC, Ramsden S, Langrová H, Lisková P. Kousal B, et al. Cesk Slov Oftalmol. 2011 Nov-Dec;67(5-6):170-4. Cesk Slov Oftalmol. 2011. PMID: 22448417 Czech.

3

[Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].

Kousal B, Skalická P, Diblík P, Kuthan P, Langrová H, Lišková P. Kousal B, et al. Cesk Slov Oftalmol. 2013 Mar;69(1):8-15. Cesk Slov Oftalmol. 2013. PMID: 23822596 Free article. Czech.

4

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Kousal B, Skalicka P, Valesova L, Fletcher T, Hart-Holden N, O'Grady A, Chakarova CF, Michaelides M, Hardcastle AJ, Liskova P. Kousal B, et al. Mol Vis. 2014 Sep 20;20:1307-17. eCollection 2014. Mol Vis. 2014. PMID: 25352739 Free PMC article.

5

[The molecular genetic and clinical findings in two probands with Stargardt disease].

Kousal B, Záhlava J, Vejvalková Š, Hejtmánková M, Lišková P. Kousal B, et al. Cesk Slov Oftalmol. 2014 Dec;70(6):228-33. Cesk Slov Oftalmol. 2014. PMID: 25640233 Free article. Czech.

6

[STORY of the Papilla - a Case Report].

Beňová A, Kuthan P, Kousal B, Diblík P, Meliška M. Beňová A, et al. Among authors: kousal b. Cesk Slov Oftalmol. 2015 Apr;71(2):116-21. Cesk Slov Oftalmol. 2015. PMID: 25962425 Free article. Czech.

7

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P. Kousal B, et al. Graefes Arch Clin Exp Ophthalmol. 2016 Sep;254(9):1833-9. doi: 10.1007/s00417-016-3358-2. Epub 2016 Apr 25. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 27113771

8

SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.

Kremlikova Pourova R, Paderova J, Copikova J, Kousal B, Dudakova L, Liskova P. Kremlikova Pourova R, et al. Among authors: kousal b. J AAPOS. 2018 Aug;22(4):312-314.e3. doi: 10.1016/j.jaapos.2017.12.009. Epub 2018 Mar 15. J AAPOS. 2018. PMID: 29551606

9

Peripapillary microcirculation in Leber hereditary optic neuropathy.

Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P. Kousal B, et al. Acta Ophthalmol. 2019 Feb;97(1):e71-e76. doi: 10.1111/aos.13817. Epub 2018 Sep 26. Acta Ophthalmol. 2019. PMID: 30259673 Free article.

10

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

Kousal B, Honzík T, Hansíková H, Ondrušková N, Čechová A, Tesařová M, Stránecký V, Meliška M, Michaelides M, Lišková P. Kousal B, et al. Folia Biol (Praha). 2019;65(3):134-141. Folia Biol (Praha). 2019. PMID: 31638560 Free article. Review.

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