Search Results - "Varsanyi, Balazs"

Ultrastructure of neurovascular changes in human diabetic retinopathy by Fehér, János, Taurone, Samanta, Spoletini, Marialuisa, Biró, Zsolt, Varsányi, Balázs, Scuderi, Gianluca, Orlando, Maria Patrizia, Turchetta, Rosaria, Micera, Alessandra, Artico, Marco

“…The previous concept regarding diabetic retinopathy assigned a primary role to hyperglycemia-induced microvascular alterations, while neuronal and glial…”
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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration by Han, Ji Hoon, Rodenburg, Kim, Hayman, Tamar, Calzetti, Giacomo, Kaminska, Karolina, Quinodoz, Mathieu, Marra, Molly, Wallerich, Sandrine, Allon, Gilad, Nagy, Zoltán Z., Knézy, Krisztina, Li, Yumei, Chen, Rui, Barboni, Mirella Telles Salgueiro, Yang, Paul, Pennesi, Mark E., van den Born, L. Ingeborgh, Varsányi, Balázs, Szabó, Viktória, Sharon, Dror, Banin, Eyal, Ben-Yosef, Tamar, Roosing, Susanne, Koenekoop, Robert K., Rivolta, Carlo

“…Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable,…”
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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation by Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá‐Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou‐Tzeli, Sofia, Matet, Alexandre, Martorell Sampol, Loreto, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne

“…Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number of cases (~5%) harboring only a single pathogenic…”
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A Comparison of Macular Structure Imaged by Optical Coherence Tomography in Preterm and Full-Term Children by Ecsedy, Monika, Szamosi, Anna, Karko, Cecilia, Zubovics, Laszlo, Varsanyi, Balazs, Nemeth, Janos, Recsan, Zsuzsa

“…Macular anatomic abnormalities were examined by optical coherence tomography (OCT) imaging in premature children and compared with those of full-term children…”
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Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes by Vámos, Rita, Külm, Maigi, Szabó, Viktoria, Ahman, Aune, Lesch, Balázs, Schneider, Miklós, Varsányi, Balázs, Nagy, Zoltán Zsolt, Németh, János, Farkas, Ágnes

“…Purpose To introduce the first Hungarian patients with genetically defined Leber congenital amaurosis (LCA) and to report 2 novel mutations. Methods Seven…”
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Comparison of pattern VEP results acquired using CRT and TFT stimulators in the clinical practice by Nagy, Balázs Vince, Gémesi, Szabolcs, Heller, Dávid, Magyar, András, Farkas, Ágnes, Ábrahám, György, Varsányi, Balázs

“…There are several electrophysiological systems available commercially. Usually, control groups are required to compare their results, due to the differences…”
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Optical Coherence Tomography of the Macula in Congenital Achromatopsia by Varsanyi, Balazs, Somfai, Gabor Mark, Lesch, Balazs, Vamos, Rita, Farkas, Agnes

“…It is known that symptoms of congenital achromatopsia are caused by the lack of functioning cones, but there are very few published data on histologic changes…”
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Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene by Lesch, Balázs, Szabó, Viktória, Kánya, Melinda, Varsányi, Balázs, Somfai, Gábor M, Hargitai, János, Vámos, Rita, Fiedler, Orsolya, Farkas, Agnes

“…To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to…”
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia by Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català‐Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell‐Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

“…Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and…”
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response by Wissinger, Bernd, Schaich, Simone, Baumann, Britta, Bonin, Michael, Jägle, Herbert, Friedburg, Christoph, Varsányi, Balázs, Hoyng, Carel B., Dollfus, Hélène, Heckenlively, John R., Rosenberg, Thomas, Rudolph, Günter, Kellner, Ulrich, Salati, Roberto, Plomp, Astrid, De Baere, Elfride, Andrassi-Darida, Monika, Sauer, Alexandra, Wolf, Christiane, Zobor, Ditta, Bernd, Antje, Leroy, Bart P., Enyedi, Péter, Cremers, Frans P.M., Lorenz, Birgit, Zrenner, Eberhart, Kohl, Susanne

“…Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations…”
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Variation in eye care professional distribution across Europe, a survey by Arnould, Louis, Varsanyi, Balazs, Dervan, Edward, Posarelli, Chiara, Filipe, Helena Prior, Bourcier, Tristan, Wedrich, Andreas, Ivekovic, Renata, Petrovski, Goran, Porro, Giorgio L., Laganovska, Guna, Balciuniene, Vilma Jurate, Mrukwa-Kominek, Ewa, Paust, Karsten, Roemer, Segolene, Haefliger, Ivan O., Atilla, Huban, Ursell, Paul, Cvenkel, Barba, Kiilgaard, Jens, Grupcheva, Christina, Furdova, Alena, Claeys, Marnix, Maresova, Klara, Mercieca, Franco, Sepp, Toomas, Parikakis, Efstratios, Burcea, Marian, Aclimandos, Wagih, Khawaja, Anthony P.

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Role of Multifocal Electroretinography in the Diagnosis of Idiopathic Macular Hole by Tuzson, Rita, Varsanyi, Balazs, Vince Nagy, Balazs, Lesch, Balazs, Vamos, Rita, Nemeth, Janos, Farkas, Agnes, Ferencz, Maria

“…To analyze the preoperative results of multifocal electroretinography (mfERG) in the fellow eyes of patients with idiopathic unilateral macular hole and to…”
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Dosing Regimens of Intravitreal Aflibercept for Diabetic Macular Edema Beyond the First Year: VIOLET, a Prospective Randomized Trial by Garweg, Justus G., Štefanickova, Jana, Hoyng, Carel, Niesen, Tobias, Schmelter, Thomas, Leal, Sergio, Sivaprasad, Sobha

“…Introduction The purpose was to compare two flexible regimens of intravitreal aflibercept (IVT-AFL) with fixed dosing every 8 weeks, beyond the first year of…”
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing by Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd

“…Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The…”
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia by KOHL, Susanne, VARSANYI, Balazs, JURKLIES, Bernhard, FARKAS, Agnes, ANDREASSON, Sten, WELEBER, Richard G, JACOBSON, Samuel G, RUDOLPH, Günther, CASTELLAN, Claudio, DOLLFUS, Helene, LEGIUS, Eric, ANASTASI, Mario, ANTUNES, Gesine Abadin, BITOUN, Pierre, LEV, Dorit, SIEVING, Paul A, MUNIER, Francis L, ZRENNER, Eberhart, SHARPE, Lindsay T, CREMERS, Frans P. M, WISSINGER, Bernd, BAUMANN, Britta, HOYNG, Carel B, JÄGLE, Herbert, ROSENBERG, Thomas, KELLNER, Ulrich, LORENZ, Birgit, SALATI, Roberto

“…Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia,…”
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Toothguide Trainer tests with color vision deficiency simulation monitor by Borbély, Judit, Varsányi, Balázs, Fejérdy, Pál, Hermann, Péter, Jakstat, Holger A

“…Abstract Objectives The aim of this study was to evaluate whether simulated severe red and green color vision deficiency (CVD) influenced color matching…”
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Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia by Reuter, Peggy, Koeppen, Katja, Ladewig, Thomas, Kohl, Susanne, Baumann, Britta, Wissinger, Bernd

“…CNGA3 encodes the A-subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel, which is a crucial component of the phototransduction cascade in…”
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Clinical and genetic features of Hungarian achromatopsia patients by Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne, Koeppen, Katja, Farkas, Agnes

“…To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients. Twelve patients with congenital…”
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