Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2016

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Apaolaza, P. S. and del Pozo-Rodriguez, A. and Solinis, M. A. and Rodriguez, J. M. and Friedrich, U. and Torrecilla, J. and Weber, B. H. F. and Rodriguez-Gascon, A. (2016) Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles. BIOMATERIALS, 90. pp. 40-49. ISSN 0142-9612, 1878-5905

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Book, Benedikt and Stoehr, Heidi Barbara and Weber, Bernhard H. F. and Spital, Georg (2016) Challenges in the diagnosis of autosomal recessive bestrophinopathy: additional case reports. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Brandl, Caroline and Breinlich, Valentin and Stark, Klaus J. and Enzinger, Sabrina and Assenmacher, Matthias and Olden, Matthias and Grassmann, Felix and Graw, Jochen and Heier, Margit and Peters, Annette and Helbig, Horst and Kuechenhoff, Helmut and Weber, Bernhard H. F. and Heid, Iris M. (2016) Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study. PLOS ONE, 11 (11): e0167181. ISSN 1932-6203

Busche, Andreas and Hehr, Ute and Sieg, Peter and Gillessen-Kaesbach, Gabriele (2016) Van der Woude and Popliteal Pterygium Syndromes: Broad Intrafamilial Variability in a Three Generation Family with Mutation in IRF6. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170 (9). pp. 2404-2407. ISSN 1552-4825, 1552-4833

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Capone, Carmen and Cognat, Emmanuel and Ghezali, Lamia and Baron-Menguy, Celine and Aubin, Deborah and Mesnard, Laurent and Stoehr, Heidi and Domenga-Denier, Valerie and Nelson, Mark T. and Joutel, Anne (2016) Reducing Timp3 or Vitronectin Ameliorates Disease Manifestations in CADASIL Mice. ANNALS OF NEUROLOGY, 79 (3). pp. 387-403. ISSN 0364-5134, 1531-8249

Chen, Connie J. and Kaufman, Stuart and Packo, Kirk and Stoehr, Heidi and Weber, Bernhard H. F. and Goldberg, Morton F. (2016) Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. OPHTHALMIC GENETICS, 37 (1). pp. 102-108. ISSN 1381-6810, 1744-5094

D

Di Donato, Nataliya and Neuhann, Teresa and Kahlert, Anne-Karin and Klink, Barbara and Hackmann, Karl and Neuhann, Irmingard and Novotna, Barbora and Schallner, Jens and Krause, Claudia and Glass, Ian A. and Parnell, Shawn E. and Benet-Pages, Anna and Nissen, Anke M. and Berger, Wolfgang and Altmueller, Janine and Thiele, Holger and Weber, Bernhard H. F. and Schrock, Evelin and Dobyns, William B. and Bier, Andrea and Rump, Andreas (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. JOURNAL OF MEDICAL GENETICS, 53 (6). pp. 419-425. ISSN 0022-2593, 1468-6244

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Fleckenstein, Monika and Grassmann, Felix and Lindner, Moritz and Pfau, Maximilian and Czauderna, Joanna and Strunz, Tobias and von Strachwitz, Claudia and Schmitz-Valckenberg, Steffen and Holz, Frank G. and Weber, Bernhard H. F. (2016) Distinct Genetic Risk Profile of the Rapidly Progressing Diffuse-Trickling Subtype of Geographic Atrophy in Age-Related Macular Degeneration (AMD). INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 57 (6). pp. 2463-2471. ISSN 0146-0404, 1552-5783

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Girisha, Katta Mohan and Bidchol, Abdul Mueed and Graul-Neumann, Luitgard and Gupta, Ashish and Hehr, Ute and Lessel, Davor and Nader, Sean and Shah, Hitesh and Wickert, Julia and Kutsche, Kerstin (2016) Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC MEDICAL GENETICS, 17: 27. ISSN 1471-2350

Grassmann, Felix and Cantsilieris, Stuart and Schulz-Kuhnt, Anja-Sabrina and White, Stefan J. and Richardson, Andrea J. and Hewitt, Alex W. and Vote, Brendan J. and Schmied, Denise and Guymer, Robyn H. and Weber, Bernhard H. F. and Baird, Paul N. (2016) Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD). JOURNAL OF NEUROINFLAMMATION, 13: 81. ISSN 1742-2094

Grosche, Antje and Hauser, Alexandra and Lepper, Marlen Franziska and Mayo, Rebecca and von Toerne, Christine and Merl-Pham, Juliane and Hauck, Stefanie M. (2016) The Proteome of Native Adult Muller Glial Cells From Murine Retina. MOLECULAR & CELLULAR PROTEOMICS, 15 (2). pp. 462-480. ISSN 1535-9476, 1535-9484

Guenther, Sven and Elert-Dobkowska, Ewelina and Soehn, Anne S. and Hinreiner, Sophie and Yoon, Grace and Heller, Raoul and Hellenbroich, Yorck and Huebner, Christian A. and Ray, Peter N. and Hehr, Ute and Bauer, Peter and Sulek, Anna and Beetz, Christian (2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. HUMAN MUTATION, 37 (7). pp. 703-709. ISSN 1059-7794, 1098-1004

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Herbst, Saskia M. and Proepper, Christiane R. and Geis, Tobias and Borggraefe, Ingo and Hahn, Andreas and Debus, Otfried and Haeussler, Martin and von Gersdorff, Gero and Kurlemann, Gerhard and Ensslen, Matthias and Beaud, Nathalie and Budde, Joerg and Gilbert, Michael and Heiming, Ralf and Morgner, Rita and Philippi, Heike and Ross, Sophia and Strobl-Wildemann, Gertrud and Muelleder, Kerstin and Vosschulte, Paul and Morris-Rosendahl, Deborah J. and Schuierer, Gerhard and Hehr, Ute (2016) LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. BRAIN & DEVELOPMENT, 38 (4). pp. 399-406. ISSN 0387-7604, 1872-7131

Hotz, Alrun and Oji, Vmzenz and Bourrat, Emmanuelle and Jonca, Nathalie and Mazereeuw-Hautier, Juliette and Betz, Regina C. and Blume-Peytavi, Ulrike and Stieler, Karola and Morice-Picard, Fanny and Schoenbuchner, Ines and Markus, Susanne and Schlipf, Nina and Fischer, Judith (2016) Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. ACTA DERMATO-VENEREOLOGICA, 96 (4). pp. 473-478. ISSN 0001-5555, 1651-2057

Hufendiek, Karsten and Jaegle, Herbert and Fiebig, Britta and Framme, Carsten and Renner, Agnes B. (2016) Autosomal recessive bestrophinopathy - clinical and functional features. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Jiang, Kailun and Molday, Laurie L. and Stoehr, Heidi Barbara and Weber, Bernhard H. F. and Maberley, David and Molday, Robert S. (2016) Clinical, genetic and functional study of ABCA4 mutations in Stargardt patients. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Karrasch, Thomas and Herbst, Saskia M. and Hehr, Ute and Schmid, Andreas and Schaeffler, Andreas (2016) How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies? EUROPEAN THYROID JOURNAL, 5 (1). pp. 73-77. ISSN 2235-0640, 2235-0802

Kast, Karin and Rhiem, Kerstin and Wappenschmidt, Barbara and Hahnen, Eric and Hauke, Jan and Bluemcke, Britta and Zarghooni, Verena and Herold, Natalie and Ditsch, Nina and Kiechle, Marion and Braun, Michael and Fischer, Christine and Dikow, Nicola and Schott, Sarah and Rahner, Nils and Niederacher, Dieter and Fehm, Tanja and Gehrig, Andrea and Mueller-Reible, Clemens and Arnold, Norbert and Maass, Nicolai and Borck, Guntram and de Gregorio, Nikolaus and Scholz, Caroline and Auber, Bernd and Varon-Manteeva, Raymonda and Speiser, Dorothee and Horvath, Judit and Lichey, Nadine and Wimberger, Pauline and Stark, Sylvia and Faust, Ulrike and Weber, Bernhard H. F. and Emons, Gunter and Zachariae, Silke and Meindl, Alfons and Schmutzler, Rita K. and Engel, Christoph (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. JOURNAL OF MEDICAL GENETICS, 53 (7). pp. 465-471. ISSN 0022-2593, 1468-6244

Kellner, Simone and Stoehr, Heidi and Fiebig, Britta and Weinitz, Silke and Farmand, Ghazaleh and Kellner, Ulrich and Weber, Bernhard H. F. (2016) Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. OPHTHALMIC GENETICS, 37 (2). pp. 201-208. ISSN 1381-6810, 1744-5094

Kellner, Simone and Weinitz, Silke and Farmand, Ghazaleh and Stoehr, Heidi Barbara and Weber, Bernhard H. F. and Kellner, Ulrich (2016) Wide-field MultiColor Spectral Imaging and Wide-field Spectral Domain Optical Coherence Tomography Imaging in ABCA4-related retinal dystrophies. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Kellner, Ulrich and Kellner, Simone and Weinitz, Silike and Farmand, Ghazaleh and Lindau, Birgit and Stoehr, Heidi Barbara and Weber, Bernhard H. F. (2016) Wide-field MultiColor Spectral Imaging and Wide-field Spectral Domain Optical Coherence Tomography Imaging in Retinitis Pigmentosa. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Lambertus, Stanley and Lindner, Moritz and Bax, Nathalie and Mauschitz, Matthias Marten and Schmid, Matthias and Schmitz-Valckenberg, Steffen and Weber, Bernhard H. F. and Holz, Frank G. and van der Wilt, Gert Jan and Fleckenstein, Monika and Hoyng, Carel C. B. (2016) Progression of late-onset Stargardt disease. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Lambertus, Stanley and Lindner, Moritz and Bax, Nathalie M. and Mauschitz, Matthias M. and Nadal, Jennifer and Schmid, Matthias and Schmitz-Valckenberg, Steffen and den Hollander, Anneke I. and Weber, Bernhard H. F. and Holz, Frank G. and van der Wilt, Gert Jan and Fleckenstein, Monika and Hoyng, Carel B. (2016) Progression of Late-Onset Stargardt Disease. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 57 (13). pp. 5186-5191. ISSN 0146-0404, 1552-5783

Larsen, Mirjam and Kress, Wolfram and Schoser, Benedikt and Hehr, Ute and Mueller, Clemens R. and Rost, Simone (2016) Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. EUROPEAN JOURNAL OF HUMAN GENETICS, 24 (10). pp. 1467-1472. ISSN 1018-4813, 1476-5438

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Mercedes Pujol-Lereis, Luciana and Fagali, Natalia Soledad and Rabossi, Alejandro and Catala, Angel and Alberto Quesada-Allue, Luis (2016) Chill-coma recovery time, age and sex determine lipid profiles in Ceratitis capitata tissues. JOURNAL OF INSECT PHYSIOLOGY, 87. pp. 53-62. ISSN 0022-1910, 1879-1611

Milenkovic, Andrea and Weber, Bernhard H. F. (2016) Mutant Bestrophin-1 (BEST1) is degraded via the endo-lysosomal pathway. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Schaefer, Nicole and Busch, Catharina and Reinders, Joerg and Weber, Bernhard and Skerka, Christine and Pauly, Diana (2016) Newly generated antibodies affect the functional role of CFHR3 in complement and AMD. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Schaefer, Nicole and Grosche, Antje and Reinders, Joerg and Enzmann, Volker and Weber, Bernhard H. F. and Ehrenstein, Boris and Zipfel, Peter F. and Skerka, Christine and Pauly, Diana (2016) RETC-2: An antibody for highly specific FHR-3 detection from human blood, retinal microglia cells and for diminishing molecular FHR-3 interactions. ELSEVIER GMBH, URBAN & FISCHER VERLAG, JENA.

Schaefer, Nicole and Grosche, Antje and Reinders, Joerg and Hauck, Stefanie M. and Pouw, Richard B. and Kuijpers, Taco W. and Wouters, Diana and Ehrenstein, Boris and Enzmann, Volker and Zipfel, Peter F. and Skerka, Christine and Pauly, Diana (2016) Complement Regular FHR-3 Is Elevated either Locally or Systemically in a Selection of Autoimmune Diseases. FRONTIERS IN IMMUNOLOGY, 7: 542. ISSN 1664-3224

Sell, Katharina and Storch, Katja and Hahn, Gabriele and Lee-Kirsch, Min Ae and Ramantani, Georgia and Jackson, Sandra and Neilson, Derek and von der Hagen, Maja and Hehr, Ute and Smitka, Martin (2016) Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. BRAIN & DEVELOPMENT, 38 (8). pp. 777-780. ISSN 0387-7604, 1872-7131

Stoehr, Heidi Barbara and Schwarzfischer, Marlene and Braun, Lisa-Marie and Aslanidis, Alexander and Langmann, Thomas and Kellner, Ulrich (2016) Investigating the pathomechanism of FAM161A-associated retinal disease in primary ciliated cells. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Tanimoto, Naoyuki and Akula, James D. and Fulton, Anne B. and Weber, Bernhard H. F. and Seeliger, Mathias W. (2016) Differentiation of murine models of "negative ERG" by single and repetitive light stimuli. DOCUMENTA OPHTHALMOLOGICA, 132 (2). pp. 101-109. ISSN 0012-4486, 1573-2622

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Vogler, Stefanie and Grosche, Antje and Pannicke, Thomas and Wiedemann, Peter and Reichenbach, Andreas and Bringmann, Andreas (2016) Endothelins Inhibit Osmotic Swelling of Rat Retinal Glial and Bipolar Cells by Activation of Growth Factor Signaling. NEUROCHEMICAL RESEARCH, 41 (10). pp. 2598-2606. ISSN 0364-3190, 1573-6903

Volz, Cornelia and Grassmann, Felix and Greslechner, Roman and Maerker, David A. and Peters, Patrick and Helbig, Horst and Gamulescu, Maria-Andreea (2016) Impact of optical coherence tomography (OCT) on decision to continue treatment for neovascuar age-related macular degeneration. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Wagner, Lysann and Pannicke, Thomas and Frommherz, Ina and Sauer, Katja and Chen, Ju and Grosche, Antje (2016) Effects of IP(3)R2 Receptor Deletion in the Ischemic Mouse Retina. NEUROCHEMICAL RESEARCH, 41 (4). pp. 677-686. ISSN 0364-3190, 1573-6903