Found: 13
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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 219, doi. 10.1002/ajmg.a.61416
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- Publication type:
- Article
Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2022, v. 166, n. 4, p. 418, doi. 10.5507/bp.2021.037
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- Publication type:
- Article
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 418, doi. 10.1111/cge.14391
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- Publication type:
- Article
Leber congenital amaurosis and early onset severe retinal dystrophy in the Czech Republic: Mutational spectrum and clinical findings.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 1, p. 61, doi. 10.1111/aos.14478
- By:
- Publication type:
- Article
Peripapillary microcirculation in Leber hereditary optic neuropathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 1, p. e71, doi. 10.1111/aos.13817
- By:
- Publication type:
- Article
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1182288
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- Publication type:
- Article
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1816, doi. 10.3390/genes12111816
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- Publication type:
- Article
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3744, doi. 10.3390/ijms25073744
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- Publication type:
- Article
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 9, p. 1833, doi. 10.1007/s00417-016-3358-2
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- Publication type:
- Article
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.
- Published in:
- Nutrients, 2021, v. 13, n. 9, p. 2925, doi. 10.3390/nu13092925
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- Publication type:
- Article
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
- Published in:
- 2021
- By:
- Publication type:
- journal article