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View article: Applicability of Electroretinography Measurements in Congenital <i>PAX6</i> -Related Aniridia
Applicability of Electroretinography Measurements in Congenital <i>PAX6</i> -Related Aniridia Open
This is the largest ERG study conducted in congenital aniridia. Results show that both photoreceptor-related functions and postreceptoral signal transmission are affected in PAX6-related aniridia, suggesting retinal changes beyond the cent…
View article: Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations
Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations Open
View article: Belszervi perforációk IV-es típusú Ehlers–Danlos-szindrómában szenvedő gyermekben
Belszervi perforációk IV-es típusú Ehlers–Danlos-szindrómában szenvedő gyermekben Open
Az Ehlers–Danlos-szindróma IV-es (vascularis) típusa autoszomális domináns módon öröklődő kollagénszintézis-rendellenesség, melyet általában megkésve diagnosztizálunk. A leggyakrabban artériarepedés vagy vastagbél-perforáció okozza az első…
View article: Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy
Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy Open
Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothel…
View article: Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions Open
View article: Arthrogryposis–renalis diszfunkció–cholestasis szindróma
Arthrogryposis–renalis diszfunkció–cholestasis szindróma Open
Összefoglaló. Az arthrogryposis–renalis diszfunkció–cholestasis (ARC) szindróma igen rossz prognózisú autoszomális recesszív kórkép. A három vezető tünethez társulhat központi idegrendszeri érintettség, siketség, cardiovascularis anomália …
View article: Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature Open
The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorder…
View article: Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis Open
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP1…
View article: The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development Open
Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with highly variable clinical and genetic conditions. Although identification of the causative genetic alterations can offer a clearer prognosis and personaliz…
View article: <i>EPG5</i> c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
<i>EPG5</i> c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome Open
We report on a sibling pair with the EPG5 c.1007A > G mutation who developed a severe form of Vici syndrome and died in infancy. The c.1007A > G (p.Gln336Arg) mutation, affecting the penultimate nucleotide and the splicing of exon 2 is the…
View article: Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies Open
View article: Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs
Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs Open
We developed a set of carefully designed primer pairs and PCR conditions to selectively determine the expression of mouse, human or rat α-SMA and ß-actin isoforms. We demonstrated the importance of primer specificity in experiments where t…