Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family

por Pach, Johanna, Kohl, Susanne, Gekeler, Florian, Zobor, Ditta
Publicado 2013

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

por Zobor, Ditta, Balousha, Ghassan, Baumann, Britta, Wissinger, Bernd
Publicado 2014

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

por Zobor, Ditta, Brühwiler, Britta, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2023

Rod and Cone Function in Patients with KCNV2 Retinopathy

por Zobor, Ditta, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart, Jägle, Herbert
Publicado 2012

Comparison of CRT and LCD monitors for objective estimation of visual acuity using the sweep VEP

por Straßer, Torsten, Leinberger, Denise Tara, Hillerkuss, Dominic, Zrenner, Eberhart, Zobor, Ditta
Publicado 2022

Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

por Mayer, Anja-Kathrin, Mahajnah, Muhammad, Zobor, Ditta, Bonin, Michael, Sharkia, Rajech, Wissinger, Bernd
Publicado 2015

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

por Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Publicado 2018

Central Visual Function and Genotype–Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa

por Kuehlewein, Laura, Straßer, Torsten, Blumenstock, Gunnar, Stingl, Katarina, Fischer, M. Dominik, Wilhelm, Barbara, Zrenner, Eberhart, Wissinger, Bernd, Kohl, Susanne, Weisschuh, Nicole, Zobor, Ditta
Publicado 2022

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

por Brandl, Caroline, Schulz, Heidi L., Charbel Issa, Peter, Birtel, Johannes, Bergholz, Richard, Lange, Clemens, Dahlke, Claudia, Zobor, Ditta, Weber, Bernhard H. F., Stöhr, Heidi
Publicado 2017

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

por Fakin, Ana, Bonnet, Crystel, Kurtenbach, Anne, Mohand-Said, Saddek, Zobor, Ditta, Stingl, Katarina, Testa, Francesco, Simonelli, Francesca, Sahel, José-Alain, Audo, Isabelle, Zrenner, Eberhart, Hawlina, Marko, Petit, Christine
Publicado 2021

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

por Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P.M., Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B., Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2021

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

por Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Publicado 2015

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

por Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Publicado 2014

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt...

por Scholl, Hendrik P. N., Moore, Anthony T., Koenekoop, Robert K., Wen, Yuquan, Fishman, Gerald A., van den Born, L. Ingeborgh, Bittner, Ava, Bowles, Kristen, Fletcher, Emily C., Collison, Frederick T., Dagnelie, Gislin, Degli Eposti, Simona, Michaelides, Michel, Saperstein, David A., Schuchard, Ronald A., Barnes, Claire, Zein, Wadih, Zobor, Ditta, Birch, David G., Mendola, Janine D., Zrenner, Eberhart
Publicado 2015

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

por Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd
Publicado 2016

Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial

por Fischer, M. Dominik, Michalakis, Stylianos, Wilhelm, Barbara, Zobor, Ditta, Muehlfriedel, Regine, Kohl, Susanne, Weisschuh, Nicole, Ochakovski, G. Alex, Klein, Reinhild, Schoen, Christian, Sothilingam, Vithiyanjali, Garcia-Garrido, Marina, Kuehlewein, Laura, Kahle, Nadine, Werner, Annette, Dauletbekov, Daniyar, Paquet-Durand, François, Tsang, Stephen, Martus, Peter, Peters, Tobias, Seeliger, Mathias, Bartz-Schmidt, Karl Ulrich, Ueffing, Marius, Zrenner, Eberhart, Biel, Martin, Wissinger, Bernd
Publicado 2020

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

por Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2013

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado 2016

Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications: Bamberg, Germany. 23-25 June, 2017

por Todd Milne, G., Sandner, Peter, Lincoln, Kathleen A., Harrison, Paul C., Chen, Hongxing, Wang, Hong, Clifford, Holly, Qian, Hu Sheng, Wong, Diane, Sarko, Chris, Fryer, Ryan, Richman, Jeremy, Reinhart, Glenn A., Boustany, Carine M., Pullen, Steven S., Andresen, Henriette, Moltzau, Lise Román, Cataliotti, Alessandro, Levy, Finn Olav, Lukowski, Robert, Frankenreiter, Sandra, Friebe, Andreas, Calamaras, Timothy, Baumgartner, Robert, McLaughlin, Angela, Aronovitz, Mark, Baur, Wendy, Wang, Guang-Rong, Kapur, Navin, Karas, Richard, Blanton, Robert, Hell, Stefan, Waldman, Scott A., Lin, Jieru E., Colon-Gonzalez, Francheska, Kim, Gilbert W., Blomain, Erik S., Merlino, Dante, Snook, Adam, Erdmann, Jeanette, Wobst, Jana, Kessler, Thorsten, Schunkert, Heribert, Walter, Ulrich, Pagel, Oliver, Walter, Elena, Gambaryan, Stepan, Smolenski, Albert, Jurk, Kerstin, Zahedi, Rene, Klinger, James R., Benza, Raymond L., Corris, Paul A., Langleben, David, Naeije, Robert, Simonneau, Gérald, Meier, Christian, Colorado, Pablo, Chang, Mi Kyung, Busse, Dennis, Hoeper, Marius M., Masferrer, Jaime L., Jacobson, Sarah, Liu, Guang, Sarno, Renee, Bernier, Sylvie, Zhang, Ping, Todd Milne, G., Flores-Costa, Roger, Currie, Mark, Hall, Katherine, Möhrle, Dorit, Reimann, Katrin, Wolter, Steffen, Wolters, Markus, Mergia, Evanthia, Eichert, Nicole, Geisler, Hyun-Soon, Ruth, Peter, Friebe, Andreas, Feil, Robert, Zimmermann, Ulrike, Koesling, Doris, Knipper, Marlies, Rüttiger, Lukas, Tanaka, Yasutake, Okamoto, Atsuko, Nojiri, Takashi, Kumazoe, Motofumi, Tokudome, Takeshi, Miura, Koichi, Hino, Jun, Hosoda, Hiroshi, Miyazato, Mikiya, Kangawa, Kenji, Kapil, Vikas, Ahluwalia, Amrita, Paolocci, Nazareno, Eaton, Philip, Campbell, James C., Henning, Philipp, Franz, Eugen, Sankaran, Banumathi, Herberg, Friedrich W., Kim, Choel, Wittwer, M., Luo, Q., Kaila, V., Dames, S. A., Tobin, Andrew, Alam, Mahmood, Rudyk, Olena, Krasemann, Susanne, Hartmann, Kristin, Prysyazhna, Oleksandra, Zhang, Min, Zhao, Lan, Weiss, Astrid, Schermuly, Ralph, Eaton, Philip, Moyes, Amie J., Chu, Sandy M., Baliga, Reshma S., Hobbs, Adrian J., Michalakis, Stylianos, Mühlfriedel, Regine, Schön, Christian, Fischer, Dominik M., Wilhelm, Barbara, Zobor, Ditta, Kohl, Susanne, Peters, Tobias, Zrenner, Eberhart, Bartz-Schmidt, Karl Ulrich, Ueffing, Marius, Wissinger, Bernd, Seeliger, Mathias, Biel, Martin, Ranek, Mark J., Kokkonen, Kristen M., Lee, Dong I., Holewinski, Ronald J., Agrawal, Vineet, Virus, Cornelia, Stevens, Donté A., Sasaki, Masayuki, Zhang, Huaqun, Mannion, Mathew M., Rainer, Peter P., Page, Richard C., Schisler, Jonathan C., Van Eyk, Jennifer E., Willis, Monte S., Kass, David A., Zaccolo, Manuela, Russwurm, Michael, Giesen, Jan, Russwurm, Corina, Füchtbauer, Ernst-Martin, Koesling, Doris, Bork, Nadja I., Nikolaev, Viacheslav O., Agulló, Luis, Floor, Martin, Villà-Freixa, Jordi, Manfra, Ornella, Calamera, Gaia, Surdo, Nicoletta C., Meier, Silja, Froese, Alexander, Nikolaev, Viacheslav O., Zaccolo, Manuela, Levy, Finn Olav, Andressen, Kjetil Wessel, Aue, Annemarie, Schwiering, Fabian, Groneberg, Dieter, Friebe, Andreas, Bajraktari, Gzona, Burhenne, Jürgen, Haefeli, Walter E., Weiss, Johanna, Beck, Katharina, Voussen, Barbara, Vincent, Alexander, Parsons, Sean P., Huizinga, Jan D., Friebe, Andreas, Mónica, Fabiola Zakia, Seto, Edward, Murad, Ferid, Bian, Ka, Burgoyne, Joseph R., Prysyazhna, Oleksandra, Richards, Daniel, Eaton, Philip, Calamera, Gaia, Bjørnerem, Marianne, Ulsund, Andrea Hembre, Kim, Jeong Joo, Kim, Choel, Levy, Finn Olav, Andressen, Kjetil Wessel, Donzelli, Sonia, Goetz, Mara, Schmidt, Kjestine, Wolters, Markus, Stathopoulou, Konstantina, Prysyazhna, Oleksandra, Scotcher, Jenna, Dees, Christian, Subramanian, Hariharan, Butt, Elke, Kamynina, Alisa, Bruce King, S., Nikolaev, Viacheslav O., de Witt, Cor, Leichert, Lars I., Feil, Robert, Eaton, Philip, Cuello, Friederike, Dobrowinski, Hyazinth, Lehners, Moritz, Schmidt, Michael Paolillo Hannes, Feil, Robert, Feil, Susanne, Wen, Lai, Wolters, Markus, Thunemann, Martin, Schmidt, Kjestine, Olbrich, Marcus, Langer, Harald, Gawaz, Meinrad, Friebe, Andreas, de Wit, Cor, Feil, Robert, Franz, Eugen, Kim, Jeong Joo, Bertinetti, Daniela, Kim, Choel, Herberg, Friedrich W., Ghofrani, Hossein-Ardeschir, Grimminger, Friedrich, Grünig, Ekkehard, Huang, Yigao, Jansa, Pavel, Jing, Zhi Cheng, Kilpatrick, David, Langleben, David, Rosenkranz, Stephan, Menezes, Flavia, Fritsch, Arno, Nikkho, Sylvia, Frey, Reiner, Humbert, Marc, Groneberg, Dieter, Aue, Annemarie, Schwiering, Fabian, Friebe, Andreas, Harloff, Manuela, Reinders, Joerg, Schlossmann, Jens, Jung, Joon, Wales, Jessica A., Chen, Cheng-Yu, Breci, Linda, Weichsel, Andrzej, Bernier, Sylvie G., Solinga, Robert, Sheppeck, James E., Renhowe, Paul A., Montfort, William R., Qin, Liying, Sung, Ying-Ju, Casteel, Darren, Kim, Choel, Kollau, Alexander, Neubauer, Andrea, Schrammel, Astrid, Russwurm, Michael, Koesling, Doris, Mayer, Bernd, Kumazoe, Motofumi, Takai, Mika, Takeuchi, Chieri, Kadomatsu, Mai, Hiroi, Shun, Takamatsu, Kanako, Nojiri, Takashi, Kangawa, Kenji, Tachibana, Hirofumi, Opelt, Marissa, Eroglu, Emrah, Waldeck-Weiermair, Markus, Russwurm, Michael, Koesling, Doris, Malli, Roland, Graier, Wolfgang F., Fassett, John T., Schrammel, Astrid, Mayer, Bernd, Sollie, Selene J., Moltzau, Lise Román, Hernandez-Valladares, Maria, Berven, Frode, Levy, Finn Olav, Andressen, Kjetil W., Nojiri, Takashi, Tokudome, Takeshi, Kumazoe, Motofumi, Arai, Miki, Suzuki, Yutaka, Miura, Koichi, Hino, Jun, Hosoda, Hiroshi, Miyazato, Mikiya, Okumura, Meinoshin, Kawaoka, Shinpei, Kangawa, Kenji, Peters, Stefanie, Schmidt, Hannes, Selin Kenet, B., Nies, Sarah Helena, Frank, Katharina, Wen, Lai, Rathjen, Fritz G., Feil, Robert, Petrova, Olga N., Lamarre, Isabelle, Négrerie, Michel, Robinson, Jerid W., Egbert, Jeremy R., Davydova, Julia, Jaffe, Laurinda A., Potter, Lincoln R., Robinson, Jerid W., Blixt, Nicholas, Shuhaibar, Leia C., Warren, Gordon L., Mansky, Kim C., Jaffe, Laurinda A., Potter, Lincoln R., Romoli, Simone, Bauch, Tobias, Dröbner, Karoline, Eitner, Frank, Ruppert, Mihály, Radovits, Tamás, Korkmaz-Icöz, Sevil, Li, Shiliang, Hegedűs, Péter, Loganathan, Sivakanan, Németh, Balázs Tamás, Oláh, Attila, Mátyás, Csaba, Benke, Kálmán, Merkely, Béla, Karck, Matthias, Szabó, Gábor, Scheib, Ulrike, Broser, Matthias, Mukherjee, Shatanik, Stehfest, Katja, Gee, Christine E., Körschen, Heinz G., Oertner, Thomas G., Hegemann, Peter, Schmidt, Hannes, Dickey, Deborah M., Dumoulin, Alexandre, Kühn, Ralf, Jaffe, Laurinda, Potter, Lincoln R., Rathjen, Fritz G., Schobesberger, Sophie, Wright, Peter, Poulet, Claire, Mansfield, Catherine, Friebe, Andreas, Harding, Sian E., Nikolaev, Viacheslav O., Gorelik, Julia, Kollau, Alexander, Opelt, Marissa, Wölkart, Gerald, Gorren, Antonius C. F., Russwurm, Michael, Koesling, Doris, Schrammel, Astrid, Mayer, Bernd, Schwaerzer, Gerburg K., Casteel, Darren E., Dalton, Nancy D., Gu, Yusu, Zhuang, Shunhui, Milewicz, Dianna M., Peterson, Kirk L., Pilz, Renate, Schwiering, Fabian, Aue, Annemarie, Groneberg, Dieter, Friebe, Andreas, Argyriou, Aikaterini I., Makrynitsa, Garyfalia, Alexandropoulos, Ioannis I., Stamopoulou, Andriana, Bantzi, Marina, Giannis, Athanassios, Topouzis, Stavros, Papapetropoulos, Andreas, Spyroulias, Georgios A., Stuehr, Dennis J., Ghosh, Arnab, Dai, Yue, Misra, Saurav, Tchernychev, Boris, Jung, Joon, Liu, Guang, Silos-Santiago, Inmaculada, Hannig, Gerhard, Dao, Vu Thao-Vi, Deile, Martin, Nedvetsky, Pavel I., Güldner, Andreas, Ibarra-Alvarado, César, Gödecke, Axel, Schmidt, Harald H. H. W., Vachaviolos, Angelos, Gerling, Andrea, Thunemann, Martin, Lutz, Stefan Z., Häring, Hans-Ulrich, Krüger, Marcel A., Pichler, Bernd J., Shipston, Michael J., Feil, Susanne, Feil, Robert, Vandenwijngaert, Sara, Ledsky, Clara D., Agha, Obiajulu, Hu, Dongjian, Domian, Ibrahim J., Buys, Emmanuel S., Newton-Cheh, Christopher, Bloch, Donald B., Voussen, Barbara, Beck, Katharina, Mauro, Nadine, Keppler, Jonas, Friebe, Andreas, Ferreira, Wilson A., Chweih, Hanan, Brito, Pamela L., Almeida, Camila B., Penteado, Carla F. F., Saad, Sara S. O., Costa, Fernando F., Frenette, Paul S., Brockschnieder, Damian, Stasch, Johannes-Peter, Sandner, Peter, Conran, Nicola, Zimmer, Daniel P., Tobin, Jenny, Shea, Courtney, Sarno, Renee, Long, Kimberly, Jacobson, Sarah, Tang, Kim, Germano, Peter, Wakefield, James, Banijamali, Ali, Im, G-Yoon Jamie, Sheppeck, James E., Profy, Albert T., Todd Milne, G., Currie, Mark G., Masferrer, Jaime L.
Publicado 2017