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Dysfunction of peripheral somatic and autonomic nervous system in patients with severe forms of Crohn's disease on biological therapy with TNFα inhibitors–A single center study.
- Published in:
- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0294441
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- Publication type:
- Article
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
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- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0288907
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- Publication type:
- Article
Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
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- 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
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1843, doi. 10.1002/ajmg.a.37685
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- Publication type:
- Article
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2020, v. 164, n. 2, p. 183, doi. 10.5507/bp.2019.017
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- Article
DYNAMIKA REZISTENCE POPULACÍ VENTURIA INAEQUALIS KE STROBILURINOVÝM FUNGICIDŮM.
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- Vedecke Prace Ovocnarske, 2023, v. 29, n. 2, p. 26, doi. 10.60702/51h2-8e88
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- Publication type:
- Article
MONITORING REZISTENCE VENTURIA INAEQUALIS K CYPRODINYLU A DIFENOKONAZOLU V ČR V LETECH 2020-2022.
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- Vedecke Prace Ovocnarske, 2022, v. 28, n. 2, p. 25
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- Publication type:
- Article
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045495
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- Article
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
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- 2018
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- Publication type:
- journal article
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.
- Published in:
- 2022
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- Publication type:
- Case Study
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766
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- Publication type:
- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
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- Publication type:
- Article
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1581, doi. 10.1038/ejhg.2015.28
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- Article
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
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- Molecular Biology Reports, 2017, v. 44, n. 6, p. 435, doi. 10.1007/s11033-017-4121-4
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- Publication type:
- Article
Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.
- Published in:
- 2017
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- Publication type:
- Erratum
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01784-0
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- Publication type:
- Article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
- Published in:
- 2019
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- Publication type:
- journal article
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
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- 2013
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- Publication type:
- journal article
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12090
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- Publication type:
- Article
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
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- PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011230
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- Publication type:
- Article
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 6, p. 491, doi. 10.1093/hmg/ddad195
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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.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 418, doi. 10.1111/cge.14391
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- Publication type:
- Article
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
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- Annals of Human Genetics, 2020, v. 84, n. 5, p. 380, doi. 10.1111/ahg.12386
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- Publication type:
- Article
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
- Published in:
- 2021
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- Publication type:
- journal article
Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies.
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- Histochemistry & Cell Biology, 2007, v. 127, n. 1, p. 115, doi. 10.1007/s00418-006-0228-8
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- Publication type:
- Article
Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation.
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- Ophthalmic Research, 2015, v. 53, n. 1, p. 30, doi. 10.1159/000365109
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- Publication type:
- Article
Phenotype Associated with the H626P Mutation and Other Changes in the TGFBIGene in Czech Families.
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- Ophthalmic Research, 2008, v. 40, n. 2, p. 105, doi. 10.1159/000115325
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- Publication type:
- Article
Impact of electrolyte solution on electrochemical oxidation treatment of Escherichia coli K‐12 by boron‐doped diamond electrodes.
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- Letters in Applied Microbiology, 2022, v. 74, n. 6, p. 924, doi. 10.1111/lam.13687
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- Publication type:
- Article
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
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- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 9, p. 757, doi. 10.1111/ceo.12783
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- Publication type:
- Article
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
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- Human Molecular Genetics, 2021, v. 30, n. 17, p. 1591, doi. 10.1093/hmg/ddab142
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- Publication type:
- Article
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
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- Acta Ophthalmologica (1755375X), 2023, v. 101, n. 6, p. 679, doi. 10.1111/aos.15654
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- Publication type:
- Article
Snail track a in a case with anterior segment dysgenesis caused by a novel FOXC1 variant.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0357
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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.
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- 2022
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- Publication type:
- Abstract
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1426, doi. 10.1111/aos.15114
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- Publication type:
- Article
Novel disease‐causing variants and phenotypic features of X‐linked megalocornea.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 4, p. 431, doi. 10.1111/aos.15022
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- Publication type:
- Article
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 1, p. 61, doi. 10.1111/aos.14478
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- Publication type:
- Article
The aims and scopes of the ERN‐EYE.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8184
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- Publication type:
- Article
Atypical corneal endothelial dystrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8040
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- Publication type:
- Article
Megalocornea in the Czech Republic‐additional clinical features and novel disease‐causing variants.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8026
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- Publication type:
- Article
Familial aniridia spectrum in four families of Czech origin with PAX6 mutations.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5365
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- Publication type:
- Article
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 7, p. e987, doi. 10.1111/aos.14123
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- 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
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- Publication type:
- Article
Analysis of <italic>KERA</italic> in four families with cornea plana identifies two novel mutations.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 1, p. e87, doi. 10.1111/aos.13484
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- Publication type:
- Article
OPA1 analysis in an international series of probands with bilateral optic atrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 4, p. 363, doi. 10.1111/aos.13285
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- Publication type:
- Article
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
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- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 3, p. e225, doi. 10.1111/aos.12038
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- Publication type:
- Article
Keratoconus in 18 pairs of twins.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 6, p. e482, doi. 10.1111/j.1755-3768.2012.02448.x
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- Publication type:
- Article
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.
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- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 2, p. e213, doi. 10.1111/j.1755-3768.2009.01802.x
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- Publication type:
- Article
Replication of SNP associations with keratoconus in a Czech cohort.
- Published in:
- 2017
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- Publication type:
- Case Study
Myxovirus Resistance Protein A mRNA Expression Kinetics in Multiple Sclerosis Patients Treated with IFNβ.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169957
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- Publication type:
- Article