Search Results - "Preising, Markus N."

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies by Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O, Decker, Christian, Preising, Markus N, Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Charbel Issa, Peter, Holz, Frank G, Baig, Shahid M, Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y, Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S, Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J

“…Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered…”
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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders by Zeitz, Christina, Michiels, Christelle, Neuillé, Marion, Friedburg, Christoph, Condroyer, Christel, Boyard, Fiona, Antonio, Aline, Bouzidi, Nassima, Milicevic, Diana, Veaux, Robin, Tourville, Aurore, Zoumba, Axelle, Seneina, Imene, Foussard, Marine, Andrieu, Camille, N. Preising, Markus, Blanchard, Steven, Saraiva, Jean‐Paul, Mesrob, Lilia, Le Floch, Edith, Jubin, Claire, Meyer, Vincent, Blanché, Hélène, Boland, Anne, Deleuze, Jean‐François, Sharon, Dror, Drumare, Isabelle, Defoort‐Dhellemmes, Sabine, Baere, Elfride, Leroy, Bart P., Zanlonghi, Xavier, Casteels, Ingele, Ravel, Thomy J., Balikova, Irina, Koenekoop, Rob K., Laffargue, Fanny, McLean, Rebecca, Gottlob, Irene, Bonneau, Dominique, Schorderet, Daniel F., L. Munier, Francis, McKibbin, Martin, Prescott, Katrina, Pelletier, Valerie, Dollfus, Hélène, Perdomo‐Trujillo, Yaumara, Faure, Céline, Reiff, Charlotte, Wissinger, Bernd, Meunier, Isabelle, Kohl, Susanne, Banin, Eyal, Zrenner, Eberhart, Jurklies, Bernhard, Lorenz, Birgit, Sahel, José‐Alain, Audo, Isabelle

“…Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes…”
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Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles by Zernant, Jana, Kulm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I, Perrault, Isabelle, Preising, Markus N, Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M, Maumenee, Irene, Koenekoop, Robert K, Allikmets, Rando

“…Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth…”
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Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data by Preising, Markus N., PhD, Wegscheider, Erika, MD, Friedburg, Christoph, MD, Poloschek, Charlotte M., MD, Wabbels, Bettina K., MD, Lorenz, Birgit, MD

“…Purpose To describe fundus autofluorescence (FAF) in carriers of choroideremia (CHM), and to compare FAF findings with ophthalmoscopy and electrophysiologic…”
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Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram by Renner, Agnes B, Kellner, Ulrich, Cropp, Elke, Preising, Markus N, MacDonald, Ian M, van den Hurk, José A J M, Cremers, Frans P M, Foerster, Michael H

“…To analyze the variability of clinical and electrophysiological characteristics in X-linked choroideremia and provide the first report of a negative…”
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Splitting of the lateral rectus muscle with medial transposition to treat oculomotor palsy: a retrospective analysis of 29 consecutive cases by Basiakos, Sotirios, Gräf, Michael, Preising, Markus N., Lorenz, Birgit

“…Purpose The lateralis splitting technique has been an interesting option for treating large-angle exotropia due to complete 3rd nerve paralysis since its…”
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Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting by Lorenz, Birgit, Künzel, Sandrine H., Preising, Markus N., Scholz, Johanna P., Chang, Petrus, Holz, Frank G., Herrmann, Philipp

“…To assess the impact of baseline data on psychophysical and morphological outcomes of subretinal voretigene neparvovec (VN) (Luxturna, Spark Therapeutics,…”
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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration by Preising, Markus N., Görg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmüller, Janine, Herebian, Diran, Beyer, Mila, Zöllner, Helge J., Wittsack, Hans-Jörg, Schaper, Jörg, Klee, Dirk, Zechner, Ulrich, Nürnberg, Peter, Schipper, Jörg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit, Häussinger, Dieter, Bolz, Hanno J.

“…ABSTRACT We previously reported that inactivation of the transmembrane taurine transporter (TauT or solute carrier 6a6) causes early retinal degeneration in…”
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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark by Astuti, Galuh D N, Bertelsen, Mette, Preising, Markus N, Ajmal, Muhammad, Lorenz, Birgit, Faradz, Sultana M H, Qamar, Raheel, Collin, Rob W J, Rosenberg, Thomas, Cremers, Frans P M

“…Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal dystrophies with an onset during the first year of life. Currently, 21…”
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy by Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V, Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I, Hardcastle, Alison J, Gardner, Jessica C, Michaelides, Michel, Branham, Kari E, Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L, Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N, Manfredini, Emanuela, Zarate, Yuri A, Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G, Kohl, Susanne

“…Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack…”
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Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life by Preising, Markus N, Abura, Michaela, Jäger, Melanie, Wassill, Klaus-Heiko, Lorenz, Birgit

“…CLN3 is a rare lysosomal storage disorder. The majority of the patients suffer from neurological degeneration in the first decade of life leading to death in…”
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The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations by Preising, Markus N, Schneider, Ute, Friedburg, Christoph, Gruber, Hildegard, Lindner, Susanne, Lorenz, Birgit

“…Inherited retinal diseases (IRDs) may be caused by variations in genes affecting the connecting cilium of photoreceptor cells and intraflagellar transport,…”
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Automated segmentation of pathological cavities in optical coherence tomography scans by Pilch, Matthäus, Stieger, Knut, Wenner, Yaroslava, Preising, Markus N, Friedburg, Christoph, Meyer zu Bexten, Erdmuthe, Lorenz, Birgit

“…To develop and evaluate a method for automated segmentation and quantitative analysis of pathological cavities in the retina visualized by spectral-domain…”
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Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance by Zeitz, Christina, Friedburg, Christoph, Preising, Markus N, Lorenz, Birgit

“…Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of non-progressive retinal disorder with largely normal fundus…”
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A Comprehensive Clinical and Biochemical Functional Study of a Novel RPE65 Hypomorphic Mutation by Lorenz, Birgit, Poliakov, Eugenia, Schambeck, Maria, Friedburg, Christoph, Preising, Markus N, Redmond, T. Michael

“…Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of the novel P25L RPE65 mutation was…”
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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2 by Michalakis, Stylianos, Shaltiel, Lior, Sothilingam, Vithiyanjali, Koch, Susanne, Schludi, Verena, Krause, Stefanie, Zeitz, Christina, Audo, Isabelle, Lancelot, Marie-Elise, Hamel, Christian, Meunier, Isabelle, Preising, Markus N, Friedburg, Christoph, Lorenz, Birgit, Zabouri, Nawal, Haverkamp, Silke, Garcia Garrido, Marina, Tanimoto, Naoyuki, Seeliger, Mathias W, Biel, Martin, Wahl-Schott, Christian A

“…Mutations in CACNA1F encoding the α1-subunit of the retinal Cav1.4 L-type calcium channel have been linked to Cav1.4 channelopathies including incomplete…”
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Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials by Lorenz, Birgit, Wegscheider, Erika, Hamel, Christian, Preising, Markus N, Stieger, Knut

“…Spatially resolved functional assessment of rods and cones under photopic and scotopic conditions is desirable to evaluate the treatment outcome of gene…”
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Bestrophin 1 - Phenotypes and Functional Aspects in Bestrophinopathies by Pasquay, Caroline, Wang, Lu Fei, Lorenz, Birgit, Preising, Markus N.

“…This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in…”
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Shared decision-making, control preferences and psychological well-being in patients with RPE65 deficiency awaiting experimental gene therapy by Nelles, Monika, Stieger, Knut, Preising, Markus N, Kruse, Johannes, Lorenz, Birgit

“…Retinal gene therapy trials are currently ongoing in a small number of inherited retinal disorders and this number is expected to rise significantly. The aim…”
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Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism by Preising, Markus N, Forster, Hedwig, Gonser, Miriam, Lorenz, Birgit

“…A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even…”
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