Entries of Jägle, Herbert on the publication server

Eilts, Sonja K., Pfeil, Johanna M., Poschkamp, Broder, Krohne, Tim U., Eter, Nicole, Barth, Teresa, Guthoff, Rainer, Lagrèze, Wolf, Grundel, Milena, Bründer, Marie-Christine, Busch, Martin, Kalpathy-Cramer, Jayashree, Chiang, Michael F., Chan, R. V. Paul, Coyner, Aaron S., Ostmo, Susan, Campbell, J. Peter, Stahl, Andreas, Grundel, Milena, Pfeil, Johanna M, Stahl, Andreas, Bründer, Marie-Christine, Bühler, Anima, Daniel, Moritz, Felzmann, Susanne, Gross, Nicolai, Horn, Stefanie, Lagrèze, Wolf A, Molnár, Fanni, Müller, Claudia, Reichl, Sabine, Reiff, Charlotte, Richter, Olga, Stech, Milena, Hentschel, Roland, Stavropolou, Dimitria, Tautz, Juliane, Bartsch, Kerstin, Braunstein, Jennifer, Brinken, Ralf, Brinkmann, Christian Karl, Czauderna, Joanna, Dralle, Wiebke, Gliem, Martin, Goebel, Arno, Heymer, Philipp, Hofmann, Martina, Holz, Frank G, Krohne, Tim U, Kupitz, David, Müller, Philipp, Petrak, Michael, Schmitz, Eva Janine, Schmitz-Valckenberg, Steffen, Schröder, Moritz, Steinberg, Julia, Supé, Julia, Kant, Evelyn, Kunze, Diana, Müller, Andreas, Adorf, Adeline, Alex, Anne, Alten, Florian, Clemens, Christoph R, Eter, Nicole, Falkenau, Silvia, Friedhoff, Caroline, Loos, Desiree Sandra, Mihailovic, Natasa, Termühlen, Julia, Uhlig, Constantin, Hörnig-Franz, Isabell, Rieger-Fackeldey, Esther, Tekaat, Maria, Werner, Claudius, Altmann, Mathias, Barth, Teresa, Blecha, Christiane, Brandl-Rühle, Sabine, Helbig, Horst, Hufendiek, Karsten, Jägle, Herbert, Konrad, Julia, Kopetzky, Eva, Lehmann, Fabian, Oberacher-Velten, Isabel, Keller-Wackerbauer, Annette, Kittel, Jochen, Segerer, Hugo, Ackermann, Phillip, Benga, Jemina, Guthoff, Rainer, Guthoff, Tanja, Kleinert, Elena, Mayatepek, Ertan, Schrader, Stefan, Völker, Magdalena, Höhn, Thomas, Lohmeier, Klaus, Sabir, Hemmen, Brevis, Francisco, Mönig, Tina, Schwarz, Simone, Ehmer, Angela, Meltendorf, Synke, Schuart, Claudia, Avenarius, Stefan, Böttger, Ralf, Apel, Christoph, Bergmann, Anne, Herrmann, Karsten, Ockert-Schön, Franziska, Wegener, Sabine, Ehrt, Oliver, Nentwich, Martin, Pressler, Angelika, Rudolph, Günther, Genzel-Boroviczeny, Orsolya, Schmidt, Susanne, Münch, Hans-Georg, Thilmany, Claude, Aisenbrey, Sabine, Bruckmann, Anna, Dimopoulos, Spyridon, Hagemann, Ulrike, Inhoffen, Werner, Partsch, Michael, Schrader, Merle, Süsskind, Daniela, Völker, Michael, Bialkowski, Anja, Müller-Hansen, Ingo, Gerberth, Andrea, Hasselbach, Heike Christine, Lindemann, Solveig, Purtskhvanidze, Konstantine, Raffel, Yvonne, Roider, Johann, Schröder, Greta, Szymanek, Beke, Tode, Jan, Bendiks, Meike, Modlich, Simon, Jandeck, Isabel, Gerding, Heinrich and Smith, Lois E H (2023) Assessment of Retinopathy of Prematurity Regression and Reactivation Using an Artificial Intelligence–Based Vascular Severity Score. JAMA Network Open 6 (1), e2251512. Fulltext not available.

Steinhelfer, Lisa, Kühnel, Thomas S. , Jägle, Herbert , Mayer, Stephanie, Karrer, Sigrid , Haubner, Frank and Schreml, Stephan (2022) Systemic therapy of necrobiotic xanthogranuloma: a systematic review. Orphanet Journal of Rare Diseases 17, art.no.132.

Gerhardt, Maximilian J., Priglinger, Claudia S. , Rudolph, Günther, Hufendiek, Karsten , Framme, Carsten, Jägle, Herbert, Salchow, Daniel J., Anschütz, Andreas, Michalakis, Stylianos and Priglinger, Siegfried G. (2022) Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis. Biomedicines 11 (1), p. 103. Fulltext not available.

Tabel, Mona, Wolf, Anne , Szczepan, Manon, Xu, Heping , Jägle, Herbert, Moehle, Christoph, Chen, Mei and Langmann, Thomas (2022) Genetic targeting or pharmacological inhibition of galectin-3 dampens microglia reactivity and delays retinal degeneration. Journal of Neuroinflammation 19 (1). Fulltext not available.

Plank, Tina, Benkowitsch, Edith M. A., Beer, Anton L., Brandl, Sabine, Maka, Malania, Frank, Sebastian M. , Jägle, Herbert and Greenlee, Mark W. (2021) Cortical thickness related to compensatory viewing strategies in patients with macular degeneration. Frontiers in Neuroscience 2021 (15), pp. 1-19.

Bachmeier, Isabel, Blecha, Christiane, Föll, Jürgen, Wolff, Daniel and Jägle, Herbert (2021) Makulopathie bei Sichelzellerkrankung.
Maculopathy in sickle cell disease. Der Ophthalmologe 118, pp. 1013-1023.

Thieme, Deborah-Teresa, Brunner, Romuald, Kandsperger, Stephanie and Jägle, Herbert (2021) Colour Vision Disorder due to Conversion Disorders in Childhood. Klinische Monatsblätter für Augenheilkunde 238 (10), pp. 1077-1083. Fulltext not available.

Schäfer, Nicole, Rasras, Anas, Ormenisan, Delia M., Amslinger, Sabine, Enzmann, Volker, Jägle, Herbert and Pauly, Diana (2021) Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells. Frontiers in Immunology 12. Fulltext not available.

Brunner, Romuald, Jägle, Herbert and Kandsperger, Stephanie (2021) Dissociative Visual Loss in Children and Adolescents. Klinische Monatsblätter für Augenheilkunde 238 (10), pp. 1084-1091. Fulltext not available.

Bergbreiter, Astrid, Jaeger, Teresa, Karle, Antje, Bitzinger, Diane, Ettl, Tobias, Spanier, Gerrit , Jägle, Herbert, Neu, Reiner, Söder, Yorick, Evert, Matthias, Reichert, Torsten E., Berneburg, Mark, Brochhausen, Christoph, Schreml, Julia, Fliegauf, Manfred, Salzer, Ulrich, Redel, Andreas and Schreml, Stephan (2021) Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation. European Journal of Medical Genetics 64 (3), p. 104144. Fulltext not available.

Hufendiek, Karsten , Hufendiek, Katerina , Jägle, Herbert, Stöhr, Heidi, Book, Marius , Spital, Georg, Rustambayova, Günay, Framme, Carsten, Weber, Bernhard H. F., Renner, Agnes B. and Kellner, Ulrich (2020) Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. International Journal of Molecular Sciences 21 (24), p. 9353. Fulltext not available.

Badea, Tudor C., Kreplova, Michaela, Kuzelova, Andrea, Antosova, Barbora, Zilova, Lucie, Jägle, Herbert and Kozmik, Zbynek (2020) Dose-dependent regulation of horizontal cell fate by Onecut family of transcription factors. PLOS ONE 15 (8), e0237403. Fulltext not available.

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan , Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian , Dudakova, Lubica , Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian , Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander , Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan , Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D. , Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika , Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M. , van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra , Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa , Weber, Bernhard H. F., Dhaenens, Claire‐Marie and Cremers, Frans P. M. (2020) Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genetics in Medicine 22 (7), pp. 1235-1246. Fulltext not available.

Barro-Soria, Rene, Caicedo, Alejandro, Jägle, Herbert, Merkel, Laura, Zhao, Na, Knop, Gabriel, Gierke, Kaspar, Dannullis, Andrea, Castrop, Hayo, Brandstätter, Johann Helmut, Kirchhoff, Frank, Feigenspan, Andreas and Strauß, Olaf (2019) Angiotensin-Receptor-Associated Protein Modulates Ca2+ Signals in Photoreceptor and Mossy Fiber cells. Scientific Reports 9 (1). Fulltext not available.

Mages, Kristin, Grassmann, Felix , Jägle, Herbert, Rupprecht, Rainer, Weber, Bernhard H. F., Hauck, Stefanie M. and Grosche, Antje (2019) The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia. Journal of Neuroinflammation 16 (1). Fulltext not available.

Jolly, Jasleen K. , Wagner, Siegfried K., Martus, Peter, MacLaren, Robert E., Wilhelm, Barbara, Webster, Andrew R., Downes, Susan M., Charbel Issa, Peter, Kellner, Ulrich, Jägle, Herbert, Rüther, Klaus, Bertelsen, Mette, Bragadóttir, Ragnheiður, Prener Holtan, Josephine, van den Born, L. Ingeborgh, Sodi, Andrea, Virgili, Gianni, Gosheva, Mariya, Pach, Johanna, Zündorf, Ida, Zrenner, Eberhart and Gekeler, Florian (2019) Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study). Ophthalmic Research 63 (3), pp. 234-243. Fulltext not available.

Zadravec, Patrick, Braunger, Barbara M., Melzer, Benjamin , Kroeber, Markus, Bösl, Michael R., Jägle, Herbert, Schlötzer-Schrehardt, Ursula and Tamm, Ernst R. (2019) Transgenic lysyl oxidase homolog 1 overexpression in the mouse eye results in the formation and release of protein aggregates. Experimental Eye Research 179, pp. 115-124. Fulltext not available.

Strasser, Torsten , Peters, Tobias, Jägle, Herbert and Zrenner, Eberhart (2018) ElVisML: an open data format for the exchange and storage of electrophysiological data in ophthalmology. Documenta Ophthalmologica 136 (1), pp. 75-92. Fulltext not available.

Malania, Maka, Konrad, Julia, Jägle, Herbert, Werner, John S. and Greenlee, Mark W. (2017) Compromised Integrity of Central Visual Pathways in Patients With Macular Degeneration. Investigative Opthalmology & Visual Science 58 (7), pp. 2939-2947.

Schlecht, Anja, Leimbeck, Sarah V., Jägle, Herbert, Feuchtinger, Annette, Tamm, Ernst R. and Braunger, Barbara M. (2017) Deletion of Endothelial Transforming Growth Factor–β Signaling Leads to Choroidal Neovascularization. The American Journal of Pathology 187 (11), pp. 2570-2589. Fulltext not available.

Koch, Marcus A., Rosenhammer, Bernd, Paper, Walter, Volz, Cornelia, Braunger, Barbara M. , Hausberger, Johanna, Jägle, Herbert and Tamm, Ernst R. (2017) Mutated olfactomedin 1 in the interphotoreceptor matrix of the mouse retina causes functional deficits and vulnerability to light damage. Histochemistry and Cell Biology 147 (4), pp. 453-469. Fulltext not available.

Leopold, Stephanie A., Zeilbeck, Ludwig F., Weber, Gregor, Seitz, Roswitha, Bösl, Michael R., Jägle, Herbert, Fuchshofer, Rudolf, Tamm, Ernst R. and Ohlmann, Andreas (2017) Norrin protects optic nerve axons from degeneration in a mouse model of glaucoma. Scientific Reports 7 (1). Fulltext not available.

Wagner, Lysann, Pannicke, Thomas, Rupprecht, Vanessa, Frommherz, Ina, Volz, Cornelia, Illes, Peter, Hirrlinger, Johannes, Jägle, Herbert, Egger, Veronica, Haydon, Philip G., Pfrieger, Frank W. and Grosche, Antje (2017) Suppression of SNARE-dependent exocytosis in retinal glial cells and its effect on ischemia-induced neurodegeneration. Glia 65 (7), pp. 1059-1071. Fulltext not available.

Plank, Tina, Frolo, Jozef, Brandl-Rühle, Sabine, Renner, Agnes B., Jägle, Herbert and Greenlee, Mark W. (2017) fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type. Optometry and Vision Science 94 (3), pp. 297-310. Fulltext not available.

Constable, Paul A., Gaigg, Sebastian B., Bowler, Dermot M. , Jägle, Herbert and Thompson, Dorothy A. (2016) Full-field electroretinogram in autism spectrum disorder. Documenta Ophthalmologica 132 (2), pp. 83-99. Fulltext not available.

Ricotti, Valeria, Jägle, Herbert, Theodorou, Maria, Moore, Anthony T., Muntoni, Francesco and Thompson, Dorothy A. (2016) Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system. European Journal of Human Genetics 24 (4), pp. 562-568. Fulltext not available.

Dannhausen, Katharina, Karlstetter, Marcus, Caramoy, Albert, Volz, Cornelia, Jägle, Herbert, Liebisch, Gerhard , Utermöhlen, Olaf and Langmann, Thomas (2015) Acid sphingomyelinase (aSMase) deficiency leads to abnormal microglia behavior and disturbed retinal function. Biochemical and Biophysical Research Communications 464 (2), pp. 434-440. Fulltext not available.

Weber, Bernhard H. F. , Bergholz, Richard, Mändl, Julia, Jägle, Herbert, Ruether, Klaus and Grassmann, Felix (2015) Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy). BMC Ophthalmology 15 (18), pp. 1-7.

Braunger, Barbara M. , Leimbeck, Sarah V., Schlecht, Anja, Volz, Cornelia, Jägle, Herbert and Tamm, Ernst R. (2015) Deletion of Ocular Transforming Growth Factor β Signaling Mimics Essential Characteristics of Diabetic Retinopathy. The American Journal of Pathology 185 (6), pp. 1749-1768. Fulltext not available.

Doycheva, D., Jägle, Herbert , Zierhut, M., Deuter, C., Blumenstock, G., Schiefer, U., Stingl, K., Januschowski, K., Voykov, B. and Stuebiger, N. (2015) Mycophenolic acid in the treatment of birdshot chorioretinopathy: long-term follow-up. British Journal of Ophthalmology 99, pp. 87-91.

Haubner, Frank, Jägle, Herbert, Nunes, Diogo Pereira, Schleder, Stephan , Cvetkova, Nadezha, Kühnel, Thomas and Gassner, Holger G. (2015) Orbital compartment: effects of emergent canthotomy and cantholysis. European Archives of Oto-Rhino-Laryngology 272 (2), pp. 479-483. Fulltext not available.

Renner, Agnes B., Dietrich-Ntoukas, Tina and Jägle, Herbert (2015) Recurrent episodes of night blindness in a patient with short bowel syndrome. Documenta Ophthalmologica 131 (3), pp. 221-230. Fulltext not available.

Maerker, David A., Zeschnigk, M., Nelles, J., Lohmann, D. R. , Worm, K., Bosserhoff, Anja-Katrin , Krupar, Rosemarie and Jägle, Herbert (2014) BAP1 germline mutation in two first grade family members with uveal melanoma. British Journal of Ophthalmology 98, pp. 224-227.

Karlstetter, Marcus, Sorusch, Nasrin, Caramoy, Albert, Dannhausen, Katharina, Aslanidis, Alexander, Fauser, Sascha, Boesl, Michael R., Nagel-Wolfrum, Kerstin, Tamm, Ernst R. , Jägle, Herbert, Stoehr, Heidi, Wolfrum, Uwe and Langmann, Thomas (2014) Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Human Molecular Genetics 23 (19), pp. 5197-5210. Fulltext not available.

Zobor, Ditta, Zrenner, Eberhart, Wissinger, Bernd, Kohl, Susanne and Jägle, Herbert (2014) GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE–ROD DYSTROPHY. Retina 34 (8), pp. 1576-1587. Fulltext not available.

Koch, Marcus A., Rosenhammer, Bernd, Koschade, Sebastian E., Braunger, Barbara M. , Volz, Cornelia, Jägle, Herbert and Tamm, Ernst R. (2014) Myocilin modulates programmed cell death during retinal development. Experimental Eye Research 125, pp. 41-52. Fulltext not available.

Renner, Agnes B., Radeck, Viola, Kellner, Ulrich, Jägle, Herbert and Helbig, Horst (2014) Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy. Documenta Ophthalmologica 129 (3), pp. 191-202. Fulltext not available.

Volz, Cornelia, Mirza, Myriam, Karlstetter, Marcus, Langiu, Monica, Somogyi, Aleksandra, Ruonala, Mika O., Tamm, Ernst R. , Jägle, Herbert and Langmann, Thomas (2013) Progressive Retinal Degeneration and Glial Activation in the CLN6nclf Mouse Model of Neuronal Ceroid Lipofuscinosis: A Beneficial Effect of DHA and Curcumin Supplementation. PLoS ONE 8 (10), e75963.

Kurtenbach, Anne , Langrová, Hana , Messias, Andre , Zrenner, Eberhart and Jägle, Herbert (2013) A comparison of the performance of three visual evoked potential-based methods to estimate visual acuity. Documenta Ophthalmologica 126 (1), pp. 45-56. Fulltext not available.

Braunger, Barbara M. , Ohlmann, Andreas, Koch, Marcus, Tanimoto, Naoyuki, Volz, Cornelia, Yang, Ying, Bösl, Michael R., Cvekl, Ales, Jägle, Herbert, Seeliger, Mathias W. and Tamm, Ernst R. (2013) Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage. Neurobiology of Disease 50, pp. 1-12. Fulltext not available.

van Waveren, Melanie, Jägle, Herbert and Besch, Dorothea (2013) Management of strabismus with hemianopic visual field defects. Graefe's Archive for Clinical and Experimental Ophthalmology 251 (2), pp. 575-584. Fulltext not available.

Messias, Katharina , Jägle, Herbert, Saran, Rafael, Ruppert, André Domingos Pinto, Siqueira, Rubens , Jorge, Rodrigo and Messias, André (2013) Psychophysically determined full-field stimulus thresholds (FST) in retinitis pigmentosa: relationships with electroretinography and visual field outcomes. Documenta Ophthalmologica 127 (2), pp. 123-129. Fulltext not available.

Thompson, Dorothy A. , Lyons, Ruth J., Russell‐Eggitt, Isabelle, Liasis, Alki , Jägle, Herbert and Grünewald, Stephanie (2013) Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG. Journal of Inherited Metabolic Disease 36 (6), pp. 1039-1047. Fulltext not available.

Shao, Yibin, Keliris, Georgios A. , Papanikolaou, Amalia , Fischer, M. Dominik, Zobor, Ditta, Jägle, Herbert, Logothetis, Nikos K. and Smirnakis, Stelios M. (2013) Visual cortex organisation in a macaque monkey with macular degeneration. European Journal of Neuroscience 38 (10), pp. 3456-3464. Fulltext not available.

Dominik Fischer, M., Zobor, Ditta, Keliris, Georgios A. , Shao, Yibin, Seeliger, Mathias W., Haverkamp, Silke, Jägle, Herbert, Logothetis, Nikos K. and Smirnakis, Stelios M. (2012) Detailed functional and structural characterization of a macular lesion in a rhesus macaque. Documenta Ophthalmologica 125 (3), pp. 179-194. Fulltext not available.

Renner, Agnes B., Walter, Andreas, Fiebig, Britta S. and Jägle, Herbert (2012) Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. Documenta Ophthalmologica 125 (1), pp. 81-89. Fulltext not available.

den Hollander, Anneke I., Zobor, Ditta , Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart and Jägle, Herbert (2012) Rod and Cone Function in Patients with KCNV2 Retinopathy. PLoS ONE 7 (10), e46762. Fulltext not available.

Besch, Dorothea, Herzau, Volker, Fetter, Michael, Koitschev, Assen and Jägle, Herbert (2012) Subjective and Motor Adaptation to Monocular Torsion. Neuro-Ophthalmology 36 (6), pp. 219-226. Fulltext not available.

Sharpe, Lindsay T., Stockman, Andrew, Jagla, Wolfgang and Jägle, Herbert (2010) A luminous efficiency function, VD65* (λ), for daylight adaptation: A correction. Color Research & Application 36 (1), pp. 42-46. Fulltext not available.

Jägle, Herbert, Zobor, Ditta and Brauns, Thomas (2010) Accommodation limits induced optical defocus in defocus experiments. Documenta Ophthalmologica 121 (2), pp. 103-109. Fulltext not available.

Kohl, Susanne , Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Salati, Roberto, Jurklies, Bernhard, Farkas, Agnes, Andreasson, Sten, Weleber, Richard G, Jacobson, Samuel G , Rudolph, Günther, Castellan, Claudio, Dollfus, Helene, Legius, Eric, Anastasi, Mario, Bitoun, Pierre , Lev, Dorit, Sieving, Paul A, Munier, Francis L, Zrenner, Eberhart, Sharpe, Lindsay T, Cremers, Frans P M and Wissinger, Bernd (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European Journal of Human Genetics 13 (3), pp. 302-308. Fulltext not available.

Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto , Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G. , Sener, E. Cumhur, Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre , Andreasson, Sten, Rudolph, Günter, Kellner, Ulrich, Lorenz, Birgit, Wolff, Gerhard, Verellen-Dumoulin, Christine, Schwartz, Marianne, Cremers, Frans P.M. , Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharpe, Lindsay T. and Kohl, Susanne (2001) CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders. The American Journal of Human Genetics 69 (4), pp. 722-737. Fulltext not available.