B. Kousal

发表

Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

T. Kalina, S. Kmoch, P. Dušek, 2019, American journal of medical genetics. Part A.

Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin

J. Moravíková, P. Lišková, L. Dudakova, 2019, Czech and Slovak Ophthalmology.

Molecular genetic cause of achromatopsia in two patients of Czech origin.

J. Moravíková, P. Lišková, L. Dudakova, 2019, Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti.

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.

M. Michaelides, M. Tesařová, T. Honzík, 2019, Folia biologica.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, bioRxiv.

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

H. Langrová, P. Lišková, L. Dudakova, 2021, Genes.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, American journal of human genetics.

Leberova hereditární neuropatie optiku Leber Hereditary Optic Neuropathy

M. Tesařová, J. Zeman, P. Havránková, 2020 .

Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.

A. Stepanov, M. Středová, B. Kousal, 2021, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

H. Prokisch, C. La Morgia, Leah Fleming, 2022, Brain : a journal of neurology.

Dominantní ( Kjerova ) atrofie optiku asociovaná s mutacemi v OPA 1 genu Dominant ( Kjer ’ s ) optic atrophy as sociated with mutations in OPA 1 gene

M. Tesařová, P. Havránková, T. Honzík, 2020 .

[Cytomegalovirus retinitis in HIV negative patients - retrospective study].

J. Heissigerova, P. Svozilkova, E. Říhová, 2013, Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti.

Leberova hereditární neuropatie optiku

M. Tesařová, J. Zeman, P. Havránková, 2018 .

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

J. Zeman, E. Hrubá, T. Adam, 2021, Nutrients.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

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

M. Michaelides, A. Hardcastle, P. Lišková, 2014, Molecular vision.

TREATMENT OPTIONS FOR PREMACULAR AND SUB-INTERNAL LIMITING MEMBRANE HEMORRHAGE.

J. Dusková, B. Kalvodová, M. Fichtl, 2021, Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti.

Innovative strategies for treating retinal diseases.

Z. Straňák, T. Ardan, M. Veith, 2019, Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti.

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

T. Honzík, P. Lišková, H. Hansíková, 2021, BMC Ophthalmology.

Peripapillary microcirculation in Leber hereditary optic neuropathy

M. Votruba, J. Bydžovský, T. Honzík, 2018, Acta ophthalmologica.

Leber Hereditary Optic Neuropathy

M. Tesařová, J. Zeman, P. Havránková, 2017 .

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma

G. Black, P. Lišková, L. Dudakova, 2023, Clinical genetics.

Confirmation of the MIR204 n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

P. Lišková, L. Dudakova, M. Vajter, 2023, medRxiv.

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

T. Kalina, M. Michaelides, H. Langrová, 2020, Acta ophthalmologica.

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

M. Michaelides, R. Gaillyová, P. Lišková, 2016, Graefe's Archive for Clinical and Experimental Ophthalmology.

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

M. Tesařová, Václav Martínek, T. Honzík, 2023, Frontiers in Genetics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2020, Genetics in Medicine.

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

J. Čopíková, P. Lišková, L. Dudakova, 2018, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation

L. Dudakova, M. Vajter, B. Kousal, 2024, International journal of molecular sciences.