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Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
Usher syndrome (USH) is the most common cause of hereditary deaf-blindness in humans with an estimated prevalence of 3-6 per 100,000 inhabitants. USH is... 
Genetic research | Single nucleotide polymorphisms | Nucleotide sequencing | Deaf | Blindness | DNA sequencing | Pathogens | USH2A protein | Copy number | Exons | Single-nucleotide polymorphism | Founder effect | Clustering | Gene polymorphism | Gene sequencing | Pathogenicity | Missense mutation | Clonal deletion | Deletion | Vestibular system | Mutation | Polymorphism | Inhabitants
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1843 - 1848
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
To identify the molecular genetic cause in a previously not reported Czech family with the occurrence of cornea plana in two siblings. Detailed... 
Pathogens | Cornea | Target recognition | Cytology | Founder effect | Cell morphology | Heterozygosity | Eye | Pathogenicity | Missense mutation | Microscopy | Thinning | Anterior chamber | Consanguinity | Mutation | Opacity | Siblings
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
A systematic literature search of the PubMed database (1 March 2016) using keywords 'Usher syndrome' AND 'mutation' AND 'Czech Republic' (or Belarus, Bulgaria,... 
Mutation | Inspection | USH2A protein | Patients | Deoxyribonucleic acid--DNA
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
To identify the molecular genetic cause in a three generation family with the occurrence of congenital cataracts, variably associated with iris colobomata and... 
Cataract | Genetic aspects | Genetic disorders | Nucleotide sequencing | DNA sequencing | Cataracts | Pathogenicity | Pathogens | Congenital diseases | Genes | Data sets | Population studies | Mutation | Incidence | Data interpretation
Journal Article
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
Usher syndrome is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa... 
Eye diseases | Genetic disorders | Nucleotide sequencing | DNA sequencing | Mutation | Geographical distribution | USH2A protein | Retinitis pigmentosa | Exons | Parents | Disorders | Population genetics | Hearing loss | Gene sequencing | Hereditary diseases | Gene frequency | Alleles | Consanguinity | Retinitis | Children
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 02/2018, Volume 96, Issue 1, pp. e87 - e91
PurposeTo identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana. MethodsDetailed ophthalmological examination... 
phenotype | KERA | novel mutation | cornea plana | KERATOCAN | DECOMPENSATION | SEQUENCE | DISEASE | OPHTHALMOLOGY | PROTEIN FUNCTION | Pathogenicity | Pathogens | Cornea | Missense mutation | Thinning | Microscopy | Eye (anatomy) | Mutation | Patients | Endothelial cells | Heterozygosity | Index Medicus
Journal Article
Medical Hypotheses, ISSN 0306-9877, 2015, Volume 84, Issue 5, pp. 518 - 524
Journal Article