Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2017

A

Albert, Silvia and Sangermano, Riccardo and Garanto, Alejandro and Bauwens, Miriam and Fakin, Ana and Van den Born, Ingeborgh and Webster, Andrew R. and De Baere, Elfride and Stoehr, Heidi and Weber, Bernhard H. F. and Hoyng, Carel C. B. and Collin, Rob W. J. and Cremers, Frans P. (2017) Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

B

Bellingrath, Julia-Sophia and Ochakovski, G. Alex and Seitz, Immanuel P. and Kohl, Susanne and Zrenner, Eberhart and Hanig, Nicola and Prokisch, Holger and Weber, Bernhard H. and Downes, Susan M. and Ramsden, Simon and MacLaren, Robert E. and Fischer, M. Dominik (2017) High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 58 (11). pp. 4457-4466. ISSN 0146-0404, 1552-5783

Berber, Patricia and Grassmann, Felix and Kiel, Christina and Weber, Bernhard H. F. (2017) An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology. ADIS INT LTD, NORTHCOTE.

Brandl, Caroline (2017) Cell-based therapies at the ocular fundus - past, present, future. MEDIZINISCHE GENETIK, 29 (2). pp. 208-216. ISSN 1863-5490

Brandl, Caroline and Schulz, Heidi L. and Issa, Peter Charbel and Birtel, Johannes and Bergholz, Richard and Lange, Clemens and Dahlke, Claudia and Zobor, Ditta and Weber, Bernhard H. F. and Stoehr, Heidi (2017) Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. GENES, 8 (7). ISSN 2073-4425

D

Dammann, Philipp and Wrede, Karsten and Zhu, Yuan and Matsushige, Toshinori and Maderwald, Stefan and Umutlu, Lale and Quick, Harald H. and Hehr, Ute and Rath, Matthias and Ladd, Mark E. and Felbor, Ute and Sure, Ulrich (2017) Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. JOURNAL OF NEUROSURGERY, 126 (2). pp. 570-577. ISSN 0022-3085, 1933-0693

G

Grassmann, Felix and Heid, Iris M. and Weber, Bernhard H. F. (2017) Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. GENETICS, 205 (2). pp. 919-924. ISSN 0016-6731, 1943-2631

Grassmann, Felix and Kiel, Christina and Gorski, Mathias and Stark, Klaus and Zimmermann, Martina and Heid, Iris M. and Weber, Bernhard H. F. (2017) Pleiotropic effect of genetic variants associated with complex diseases and traits in age-related macular degeneration. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Grassmann, Felix and Kiel, Christina and Zimmermann, Martina E. and Gorski, Mathias and Grassmann, Veronika and Stark, Klaus and Heid, Iris M. and Weber, Bernhard H. F. (2017) Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. GENOME MEDICINE, 9: 29. ISSN 1756-994X

Grassmann, Felix and Weber, Bernhard (2017) Genetic risks and therapy development in retinal degeneration. MEDIZINISCHE GENETIK, 29 (2). pp. 195-201. ISSN 1863-5490

Grosche, Antje and Mages, Kristin and Jaegle, Herbert (2017) TSPO agonist XBD173 protects photoreceptors in a murine model of retinal ischemia. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

J

Jahic, Amir and Hinreiner, Sophie and Emberger, Werner and Hehr, Ute and Zuchner, Stephan and Beetz, Christian (2017) Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. HUMAN MUTATION, 38 (3). pp. 275-278. ISSN 1059-7794, 1098-1004

K

Kanno, Claudia Misue and de Oliveira, Jose Americo and Garcia, Jose Fernando and Roth, Helmut and Weber, Bernhard H. F. (2017) Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption. AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS, 151 (3). pp. 598-606. ISSN 0889-5406, 1097-6752

Kellner, Ulrich and Stoehr, Heidi and Weinitz, Silke and Farmand, Ghazaleh and Weber, Bernhard H. F. (2017) Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. OPHTHALMIC GENETICS, 38 (4). pp. 340-344. ISSN 1381-6810, 1744-5094

Kuechler, Alma and Czeschik, Johanna Christina and Graf, Elisabeth and Grasshoff, Ute and Hueffmeier, Ulrike and Busa, Tiffany and Beck-Woedl, Stefanie and Faivre, Laurence and Riviere, Jean-Baptiste and Bader, Ingrid and Koch, Johannes and Reis, Andre and Hehr, Ute and Rittinger, Olaf and Sperl, Wolfgang and Haack, Tobias B. and Wieland, Thomas and Engels, Hartmut and Prokisch, Holger and Strom, Tim M. and Luedecke, Hermann-Josef and Wieczorek, Dagmar (2017) Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. EUROPEAN JOURNAL OF HUMAN GENETICS, 25 (2). pp. 183-191. ISSN 1018-4813, 1476-5438

M

Micklisch, Sven and Lin, Yuchen and Jacob, Saskia and Karlstetter, Marcus and Dannhausen, Katharina and Dasari, Prasad and von der Heide, Monika and Dahse, Hans-Martin and Schmoelz, Lisa and Grassmann, Felix and Alene, Medhanie and Fauser, Sascha and Neumann, Harald and Lorkowski, Stefan and Pauly, Diana and Weber, Bernhard H. and Joussen, Antonia M. and Langmann, Thomas and Zipfel, Peter F. and Skerka, Christine (2017) Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator. JOURNAL OF NEUROINFLAMMATION, 14: 4. ISSN 1742-2094

N

Neuhaus, Christine and Eisenberger, Tobias and Decker, Christian and Nagl, Sandra and Blank, Cornelia and Pfister, Markus and Kennerknecht, Ingo and Mueller-Hofstede, Cornelie and Issa, Peter Charbel and Heller, Raoul and Beck, Bodo and Ruether, Klaus and Mitter, Diana and Rohrschneider, Klaus and Steinhauer, Ute and Korbmacher, Heike M. and Huhle, Dagmar and Elsayed, Solaf M. and Taha, Hesham M. and Baig, Shahid M. and Stoehr, Heidi and Preising, Markus and Markus, Susanne and Moeller, Fabian and Lorenz, Birgit and Nagel-Wolfrum, Kerstin and Khan, Arif O. and Bolz, Hanno J. (2017) Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. MOLECULAR GENETICS & GENOMIC MEDICINE, 5 (5). pp. 531-552. ISSN 2324-9269

P

Pauly, Diana and Schaefer, Nicole and Grosche, Antje (2017) Cell-type specific complement expression in aging, albino mice. PERGAMON-ELSEVIER SCIENCE LTD, OXFORD.

Pauly, Diana and Schaefer, Nicole and Schmitt, Sabrina and Grosche, Antje and Braunger, Barbara (2017) Time-dependent local expression pattern of complement components in light-induced photoreceptor degeneration. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Pfaller, A. and Grassmann, F. and Hauser, A. and Pannicke, T. and Hauck, S. M. and Kloeting, N. and Weber, B. and Grosche, A. (2017) miRNA profile and expression analysis of Muller cells from the diabetic retina implicates a possible role of PDGF-mediated signaling in retinal glia for disease progression. WILEY, HOBOKEN.

Ploessl, Karolina and Royer, Melanie and Bernklau, Sarah and Tavraz, Neslihan N. and Friedrich, Thomas and Wild, Jens and Weber, Bernhard H. F. and Friedrich, Ulrike (2017) Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. MOLECULAR BIOLOGY OF THE CELL, 28 (16). pp. 2178-2189. ISSN 1059-1524, 1939-4586

Ploessl, Karolina and Weber, Bernhard H. F. and Friedrich, Ulrike (2017) The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 21 (4). pp. 768-780. ISSN 1582-4934

Ploessl, Karolina Anna Erika and Royer, Melanie and Bernklau, Sarah and Tavraz, Neslihan and Friedrich, Thomas and Weber, Bernhard H. F. and Friedrich, Ulrike (2017) Retinoschisin is associated with the retinal Na/K-ATPase signaling complex - impact on disease pathology of X-linked juvenile retinoschisis. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Pujol-Lereis, Luciana and Liebisch, Gerhard and Schick, Tina and Fauser, Sascha and Grassmann, Felix and Weber, Bernhard H. F. (2017) Serum lipidomic analysis showed a dysregulation of sphingolipids in AMD patients, which may reflect the response of cells to lipid peroxidation products. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

R

Rath, Matthias and Spiegler, Stefanie and Nath, Neetika and Schwefel, Konrad and Di Donato, Nataliya and Gerber, Johannes and Korenke, G. Christoph and Hellenbroich, Yorck and Hehr, Ute and Gross, Stephanie and Sure, Ulrich and Zoll, Barbara and Gilberg, Eberhard and Kaderali, Lars and Felbor, Ute (2017) Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. MOLECULAR GENETICS & GENOMIC MEDICINE, 5 (1). pp. 21-27. ISSN 2324-9269

Romaniello, Romina and Arrigoni, Filippo and Panzeri, Elena and Poretti, Andrea and Micalizzi, Alessia and Citterio, Andrea and Bedeschi, Maria Francesca and Berardinelli, Angela and Cusmai, Margherita and D'Arrigo, Stefano and Ferraris, Alessandro and Hackenberg, Annette and Kuechler, Alma and Mancardi, Margherita and Nuovo, Sara and Oehl-Jaschkowitz, Barbara and Rossi, Andrea and Signorini, Sabrina and Tuettelmann, Frank and Wahl, Dagmar and Hehr, Ute and Boltshauser, Eugen and Bassi, Maria Teresa and Valente, Enza Maria and Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. EUROPEAN RADIOLOGY, 27 (12). pp. 5080-5092. ISSN 0938-7994, 1432-1084

Romaniello, Romina and Arrigoni, Filippo and Panzeri, Elena and Poretti, Andrea and Micalizzi, Alessia and Citterio, Andrea and Bedeschi, Maria Francesca and Berardinelli, Angela and Cusmai, Raffaella and D'Arrigo, Stefano and Ferraris, Alessandro and Hackenberg, Annette and Kuechler, Alma and Mancardi, Margherita and Nuovo, Sara and Oehl-Jaschkowitz, Barbara and Rossi, Andrea and Signorini, Sabrina and Tuettelmann, Frank and Wahl, Dagmar and Hehr, Ute and Boltshauser, Eugen and Bassi, Maria Teresa and Valente, Enza Maria and Borgatti, Renato (2017) Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation (vol 27, pg 5080, 2017). [["eprint_typename_proceeding" not defined]]

S

Schaefer, Nicole and Grosche, Antje and Schmitt, Sabrina I. and Braunger, Barbara M. and Pauly, Diana (2017) Complement Components Showed a Time-Dependent Local Expression Pattern in Constant and Acute White Light-Induced Photoreceptor Damage. FRONTIERS IN MOLECULAR NEUROSCIENCE, 10: 197. ISSN 1662-5099

Schulz, Heidi L. and Grassmann, Felix and Kellner, Ulrich and Spital, Georg and Ruether, Klaus and Jaegle, Herbert and Hufendiek, Karsten and Rating, Philipp and Huchzermeyer, Cord and Baier, Maria J. and Weber, Bernhard H. F. and Stoehr, Heidi (2017) Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 58 (1). pp. 394-403. ISSN 0146-0404, 1552-5783

Seliger, G. and Kamin, G. and Rogenhofer, N. and Ebner, S. and Toth, B. and Schenk, M. and Henes, M. and Bohlmann, M. K. and Fischer, T. and Petroff, D. and Schleussner, E. (2017) Progesterone supplementation for preventing recurrent miscarriage - a secondary analysis of the ETHIG II trial. PERGAMON-ELSEVIER SCIENCE LTD, OXFORD.

W

Wagner, Lysann and Pannicke, Thomas and Rupprecht, Vanessa and Frommherz, Ina and Volz, Cornelia and Illes, Peter and Hirrlinger, Johannes and Jaegle, Herbert and Egger, Veronica and Haydon, Philip G. and 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. ISSN 0894-1491, 1098-1136

Weber, Bernhard H. F. (2017) Therapeutic options in hereditary retinal degenerations. [["eprint_typename_editorial" not defined]]