Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2015

A

Apaolaza, P. S. and del Pozo-Rodriguez, A. and Torrecilla, J. and Rodriguez-Gascon, A. and Rodriguez, J. M. and Friedrich, U. and Weber, B. H. F. and Solinis, M. A. (2015) Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model. JOURNAL OF CONTROLLED RELEASE, 217. pp. 273-283. ISSN 0168-3659, 1873-4995

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Bangol, Barbara and Zacher, Thomas and Flieger, Oliver and Rabenstein, Hannah and Poggel, Sebastian and Hirv, Kaimo (2015) AUTOMATION OF HIGH RESOLUTION HLA TYPING BY NEXT GENERATION SEQUENCING ON HAMILTON'S LIQUID HANDLING SYSTEMS. WILEY-BLACKWELL, HOBOKEN.

Brandl, Caroline and Grassmann, Felix and Riolfi, Julia and Weber, Bernhard H. F. (2015) Tapping Stem Cells to Target AMD: Challenges and Prospects. MDPI, BASEL.

C

Chaoui, Rabih and Hehr, Ute (2015) Prenatal diagnosis of fetal microcephaly. MEDIZINISCHE GENETIK, 27 (4). pp. 351-361. ISSN 1863-5490

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Friedrich, Ulrike and Datta, Shyamtanu and Schubert, Thomas and Ploessl, Karolina and Schneider, Magdalena and Grassmann, Felix and Fuchshofer, Rudolf and Tiefenbach, Klaus-Juergen and Laengst, Gernot and Weber, Bernhard H. F. (2015) Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-beta signaling. HUMAN MOLECULAR GENETICS, 24 (22). pp. 6361-6373. ISSN 0964-6906, 1460-2083

Fuerstenau-Sharp, Maya and Zimmermann, Martina E. and Stark, Klaus and Jentsch, Nico and Klingenstein, Melanie and Drzymalski, Marzena and Wagner, Stefan and Maier, Lars S. and Hehr, Ute and Baessler, Andrea and Fischer, Marcus and Hengstenberg, Christian (2015) Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells. PLOS ONE, 10 (5): UNSP e0126. ISSN 1932-6203

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Gliem, Martin and Mueller, Philipp L. and Mangold, Elisabeth and Bolz, Hanno J. and Stoehr, Heidi and Weber, Bernhard H. F. and Holz, Frank G. and Issa, Peter Charbel (2015) Reticular Pseudodrusen in Sorsby Fundus Dystrophy. OPHTHALMOLOGY, 122 (8). pp. 1555-1562. ISSN 0161-6420, 1549-4713

Gliem, Martin and Mueller, Philipp L. and Mangold, Elisabeth and Holz, Frank G. and Bolz, Hanno J. and Stoehr, Heidi and Weber, Bernhard H. F. and Issa, Peter Charbel (2015) Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcome. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56 (4). pp. 2664-2676. ISSN 0146-0404, 1552-5783

Gramer, Gwendolyn and Weber, Bernhard H. F. and Gramer, Eugen (2015) Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56 (13). pp. 7999-8007. ISSN 0146-0404, 1552-5783

Grassmann, Felix and Ach, Thomas and Brandl, Caroline and Heid, Iris M. and Weber, Bernhard H. F. (2015) What Does Genetics Tell Us About Age-Related Macular Degeneration? In: UNSPECIFIED Annual Review of Vision Science,, 1 . ANNUAL REVIEWS, PALO ALTO, pp. 73-96. ISBN 978-0-8243-5101-4

Grassmann, Felix and Bergholz, Richard and Maendl, Julia and Jaegle, Herbert and Ruether, Klaus and Weber, Bernhard H. F. (2015) Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy). BMC OPHTHALMOLOGY, 15: 18. ISSN 1471-2415

Grassmann, Felix and Fauser, Sascha and Weber, Bernhard H. F. (2015) The genetics of age-related macular degeneration (AMD) - Novel targets for designing treatment options? EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS, 95. pp. 194-202. ISSN 0939-6411, 1873-3441

Grassmann, Felix and Fleckenstein, Monika and Chew, Emily Y. and Strunz, Tobias and Schmitz-Valckenberg, Steffen and Goebel, Arno P. and Klein, Michael L. and Ratnapriya, Rinki and Swaroop, Anand and Holz, Frank G. and Weber, Bernhard H. F. (2015) Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration. PLOS ONE, 10 (5): e0126636. ISSN 1932-6203

Grassmann, Felix and Friedrich, Ulrike and Fauser, Sascha and Schick, Tina and Milenkovic, Andrea and Schulz, Heidi L. and von Strachwitz, Claudia N. and Bettecken, Thomas and Lichtner, Peter and Meitinger, Thomas and Arend, Nicole and Wolf, Armin and Haritoglou, Christos and Rudolph, Guenther and Chakravarthy, Usha and Silvestri, Giuliana and McKay, Gareth J. and Freitag-Wolf, Sandra and Krawczak, Michael and Smith, R. Theodore and Merriam, John C. and Merriam, Joanna E. and Allikmets, Rando and Heid, Iris M. and Weber, Bernhard H. F. (2015) A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD). NEUROMOLECULAR MEDICINE, 17 (2). pp. 111-120. ISSN 1535-1084, 1559-1174

Grassmann, Felix and Heid, Iris and Weber, Bernhard Hf (2015) In-depth fine-mapping of 34 loci associated with age-related macular degeneration (AMD). ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

H

Hauser, A. and Barthelemy, A. and Demais, V. and Pfrieger, F. W. and Grosche, A. (2015) VAMP expression in healthy and gliotic murine Muller glia cells. WILEY-BLACKWELL, HOBOKEN.

Herbst, S. M. and Schirmer, S. and Posovszky, C. and Jochum, F. and Roedl, T. and Schroeder, J. A. and Barth, T. F. and Hehr, U. and Melter, M. and Vermehren, J. (2015) Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing. MOLECULAR AND CELLULAR PROBES, 29 (5). pp. 291-298. ISSN 0890-8508

Herbst, Saskia M. and Schuierer, Gerhard and Hehr, Ute (2015) Structural brain malformations with microcephaly. MEDIZINISCHE GENETIK, 27 (4). pp. 377-387. ISSN 1863-5490

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Kellner, U. and Kellner, S. and Weinitz, S. and Farmand, G. and Weber, B. H. F. and Stoehr, H. (2015) Inherited Retinal or Optic Nerve Disorders - Five Steps to Diagnosis. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 232 (3). pp. 250-258. ISSN 0023-2165, 1439-3999

Kellner, Ulrich and Stoehr, Heidi and Kohl, Susanne and Weber, Bernhard H. F. and Wissinger, Bernd and Neuhann, Teresa and Weinitz, Silke and Farmand, Ghazaleh and Kellner, Simone (2015) A Decade Of Diagnosing Inherited Retinal Dystrophies and Optic Atrophies: The Evolution Towards An Advanced Standardized Retinal Imaging and Molecular Genetic Approach. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Milenkovic, Andrea and Brandl, Caroline and Milenkovic, Vladimir M. and Jendryke, Thomas and Sirianant, Lalida and Wanitchakool, Potchanart and Zimmermann, Stephanie and Reiff, Charlotte M. and Horling, Franziska and Schrewe, Heinrich and Schreiber, Rainer and Kunzelmann, Karl and Wetzel, Christian H. and Weber, Bernhard H. F. (2015) Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 112 (20). E2630-E2639. ISSN 0027-8424

Mueller, Philipp L. and Gliem, Martin and Mangold, Elisabeth and Bolz, Hanno J. and Finger, Robert P. and McGuinness, Myra and Betz, Christian and Jiang, Zhichun and Weber, Bernhard H. F. and MacLaren, Robert E. and Holz, Frank G. and Radu, Roxana A. and Issa, Peter Charbel (2015) Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56 (13). pp. 8179-8186. ISSN 0146-0404, 1552-5783

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Preissler, Julia and Grosche, Antje and Lede, Vera and Le Duc, Diana and Kruegel, Katja and Matyash, Vitali and Szulzewsky, Frank and Kallendrusch, Sonja and Immig, Kerstin and Kettenmann, Helmut and Bechmann, Ingo and Schoeneberg, Torsten and Schulz, Angela (2015) Altered Microglial Phagocytosis in GPR34-Deficient Mice. GLIA, 63 (2). pp. 206-215. ISSN 0894-1491, 1098-1136

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Schaefer, Nicole and Foeckler, Renate and Eckert, Elfriede and Dannullis, Andrea and Reinders, Joerg and Weber, Bernhard and Skerka, Christine and Pauly, Diana (2015) Newly generated antibodies indicate CFHR3 function in the humane complement system. PERGAMON-ELSEVIER SCIENCE LTD, OXFORD.

Schleussner, Ekkehard and Kamin, Gabriele and Seliger, Gregor and Rogenhofer, Nina and Ebner, Susanne and Toth, Bettina and Schenk, Michael and Henes, Melanie and Bohlmann, Michael K. and Fischer, Thorsten and Brosteanu, Oana and Bauersachs, Rupert and Petroff, David (2015) Low-Molecular-Weight Heparin for Women With Unexplained Recurrent Pregnancy Loss A Multicenter Trial With a Minimization Randomization Scheme. ANNALS OF INTERNAL MEDICINE, 162 (9). 601-U193. ISSN 0003-4819, 1539-3704

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Voigt, Juliane and Grosche, Antje and Vogler, Stefanie and Pannicke, Thomas and Hollborn, Margrit and Kohen, Leon and Wiedemann, Peter and Reichenbach, Andreas and Bringmann, Andreas (2015) Nonvesicular Release of ATP from Rat Retinal Glial (Muller) Cells is Differentially Mediated in Response to Osmotic Stress and Glutamate. NEUROCHEMICAL RESEARCH, 40 (4). pp. 651-660. ISSN 0364-3190, 1573-6903

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Weaver, K. Nicole and Watt, Kristin E. Noack and Hufnagel, Robert B. and Acedo, Joaquin Navajas and Linscott, Luke L. and Sund, Kristen L. and Bender, Patricia L. and Koenig, Rainer and Lourenco, Charles M. and Hehr, Ute and Hopkin, Robert J. and Lohmann, Dietmar R. and Trainor, Paul A. and Wieczorek, Dagmar and Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. AMERICAN JOURNAL OF HUMAN GENETICS, 96 (5). pp. 765-774. ISSN 0002-9297, 1537-6605

Weber, Bernhard H. F. and Fleckenstein, Monika and Chew, Emily Y. and Schmitz-Valckenberg, Steffen and Goebel, Arno P. and Klein, Michael L. and Ratnapriya, Rinki and Swaroop, Anand and Holz, Frank G. and Grassmann, Felix (2015) Genetic and clinical factors associated with progression of geographic atrophy in age-related macular degeneration. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Wunderlich, Kirsten A. and Tanimoto, Naoyuki and Grosche, Antje and Zrenner, Eberhart and Pekny, Milos and Reichenbach, Andreas and Seeliger, Mathias W. and Pannicke, Thomas and Perez, Maria-Thereza (2015) Retinal functional alterations in mice lacking intermediate filament proteins glial fibrillary acidic protein and vimentin. FASEB JOURNAL, 29 (12). pp. 4815-4828. ISSN 0892-6638, 1530-6860