Search Results - Ulrich Kellner
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Mutation Analysis Identifies<i>GUCY2D</i>as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration by Veronique Kitiratschky, Robert Wilke, Agnes B. Renner, Ulrich Kellner, Maria Vadalà, David G. Birch, Bernd Wissinger, Eberhart Zrenner, Susanne Kohl
Published 2008Artigo -
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Mutations in the<i>GUCA1A</i>gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase by Veronique Kitiratschky, Petra Behnen, Ulrich Kellner, John R. Heckenlively, Eberhart Zrenner, Herbert Jägle, Susanne Kohl, Bernd Wissinger, Karl‐Wilhelm Koch
Published 2009Artigo -
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Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21 by Susanne Kohl, Britta Baumann, Martina Broghammer, Herbert Jägle, Paul A. Sieving, Ulrich Kellner, Robert Spegal, M. Anastasi, E. Zrenner, Lindsay T. Sharpe, Bernd Wissinger
Published 2000Artigo -
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The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial by Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Straßer, Bernd Wissinger, Susanne Kohl, Eberhart Zrenner
Published 2017Artigo -
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Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs by H.L. Schulz, Felix Graßmann, Ulrich Kellner, Georg Spital, Klaus Rüther, Herbert Jägle, Karsten Hufendiek, Philipp Rating, Cord Huchzermeyer, Maria J. Baier, Bernhard H. F. Weber, Heidi Stöhr
Published 2017Artigo -
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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies by Veronique Kitiratschky, Tanja Grau, Antje Bernd, Eberhart Zrenner, Herbert Jägle, Agnes B. Renner, Ulrich Kellner, Günther Rudolph, Samuel G. Jacobson, Artur V. Cideciyan, Simone Schaich, Susanne Kohl, Bernd Wissinger
Published 2008Artigo -
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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degen... by Franziska Krämer, Karen L. White, Daniel Pauleikhoff, Andrea Gehrig, Lori A. Passmore, Andrea Rivera, Günther Rudolph, Ulrich Kellner, Monika Andrassi, Birgit Lorenz, Klaus Rohrschneider, A. Blankenagel, Bernhard Jurklies, H Schilling, F. Schütt, Frank G. Holz, Bernhard H. F. Weber
Published 2000Artigo -
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CRB1 mutation spectrum in inherited retinal dystrophies by Anneke I. den Hollander, Jason A. Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman, Frans P.M. Cremers
Published 2004Revisão -
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing by Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, C. Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger
Published 2016Artigo -
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy by Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie O. Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manès, Arka Chakraborty, Audrey Sénéćhal, Béatrice Bocquet, Chantal Cazevieille, Agathe Roubertie, Agnès Müller, Majida Charif, David Goudenège, Guy Lenaers, Helmut Wilhelm, Ulrich Kellner, Nicole Weisschuh, Bernd Wissinger, Xavier Zanlonghi, Christian Hamel, Johannes N. Spelbrink, Marı́a Solà, Cécile Delettre
Published 2019Artigo -
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene by Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born, Yvette J.M. de Kok, Saskia D. van der Velde-Visser, Ulrich Kellner, Bernhard Jurklies, Mary J. van Schooneveld, A. Blankenagel, Klaus Rohrschneider, Bernd Wissinger, J.R.M. Cruysberg, August F. Deutman, Han G. Brunner, Eckart Apfelstedt-Sylla, Carel B. Hoyng, Frans P.M. Cremers
Published 2001Artigo -
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Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis by Suzanne Yzer, Bart P. Leroy, Elfride De Baere, Thomy de Ravel, Marijke N. Zonneveld, Krysta Voesenek, Ulrich Kellner, José P. Martinez Ciriano, Jan-Tjeerd H.N. de Faber, Klaus Rohrschneider, Ronald Roepman, Anneke I. den Hollander, J.R.M. Cruysberg, Franc ̧oise Meire, Ingele Casteels, Norka G. van Moll-Ramirez, Rando Allikmets, L. Ingeborgh van den Born, Frans P.M. Cremers
Published 2006Artigo
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Biology
Genetics
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Retinal
Medicine
Biochemistry
Missense mutation
Ophthalmology
Phenotype
Retina
Retinitis pigmentosa
ABCA4
Achromatopsia
Disease
Molecular biology
Neuroscience
Stargardt disease
Internal medicine
Nonsense mutation
Pathology
Receptor
Allele
Compound heterozygosity
Electroretinography
Endocrinology
Exon
Fundus (uterus)
GUCY2D
Guanylate cyclase