Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2014

B

Basmanav, F. Buket and Oprisoreanu, Ana-Maria and Pasternack, Sandra M. and Thiele, Holger and Fritz, Guenter and Wenzel, Joerg and Groesser, Leopold and Wehner, Maria and Wolf, Sabrina and Fagerberg, Christina and Bygum, Anette and Altmueller, Janine and Ruetten, Arno and Parmentier, Laurent and El Shabrawi-Caelen, Laila and Hafner, Christian and Nuernberg, Peter and Kruse, Roland and Schoch, Susanne and Hanneken, Sandra and Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. AMERICAN JOURNAL OF HUMAN GENETICS, 94 (1). pp. 135-143. ISSN 0002-9297, 1537-6605

Brandl, Caroline and Zimmermann, Stephanie and Grassmann, Felix and Milenkovic, Vladimir and Milenkovic, Andrea and Kaesbauer, Johanna and Hehr, Ute and Wetzel, Christian H. and Helbig, Horst and Weber, Bernhard H. F. (2014) In-depth characterisation of retinal pigment epithelium (RPE) cells derived from human induced pluripotent stem cells (iPSC). ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Brandl, Caroline and Zimmermann, Stephanie J. and Milenkovic, Vladimir M. and Rosendahl, Sibylle M. G. and Grassmann, Felix and Milenkovic, Andrea and Hehr, Ute and Federlin, Marianne and Wetzel, Christian H. and Helbig, Horst and Weber, Bernhard H. F. (2014) In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC). NEUROMOLECULAR MEDICINE, 16 (3). pp. 551-564. ISSN 1535-1084, 1559-1174

C

Chen, Rui and Hollborn, Margrit and Grosche, Antje and Reichenbach, Andreas and Wiedemann, Peter and Bringmann, Andreas and Kohen, Leon (2014) Effects of the vegetable polyphenols epigallocatechin-3-gallate, luteolin, apigenin, myricetin, quercetin, and cyanidin in primary cultures of human retinal pigment epithelial cells. MOLECULAR VISION, 20. pp. 242-258. ISSN 1090-0535

E

Evers, C. and Jungwirth, M. S. and Morgenthaler, J. and Hinderhofer, K. and Maas, B. and Janssen, J. W. G. and Jauch, A. and Hehr, U. and Steinbeisser, H. and Moog, U. (2014) Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. CLINICAL GENETICS, 85 (4). pp. 347-352. ISSN 0009-9163, 1399-0004

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Garcia, Tarcyane Barata and Pannicke, Thomas and Vogler, Stefanie and Berk, Benjamin-Andreas and Grosche, Antje and Wiedemann, Peter and Seeger, Johannes and Reichenbach, Andreas and Herculano, Anderson Manoel and Bringmann, Andreas (2014) Nerve growth factor inhibits osmotic swelling of rat retinal glial (Muller) and bipolar cells by inducing glial cytokine release. JOURNAL OF NEUROCHEMISTRY, 131 (3). pp. 303-313. ISSN 0022-3042, 1471-4159

Gliem, Martin and Holz, Frank G. and Stoehr, Heidi and Weber, Bernhard H. F. and Issa, Peter Charbel (2014) X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY Phenotypic Variability and Report of a Homozygous Female Patient. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 34 (12). pp. 2472-2478. ISSN 0275-004X, 1539-2864

Gorski, Mathias and Winkler, Thomas W. and Stark, Klaus and Mueller-Nurasyid, Martina and Ried, Janina S. and Grallert, Harald and Weber, Bernhard H. F. and Heid, Iris M. (2014) Harmonization of Study and Reference Data by PhaseLift: Saving Time When Imputing Study Data. GENETIC EPIDEMIOLOGY, 38 (5). pp. 381-388. ISSN 0741-0395, 1098-2272

Gramer, Gwendolyn and Weber, Bernhard H. F. and Gramer, Eugen (2014) Results of a Patient-Directed Survey on Frequency of Family History of Glaucoma in 2170 Patients. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 55 (1). pp. 259-264. ISSN 0146-0404, 1552-5783

Grassmann, Felix and Schoenberger, Peter G. A. and Brandl, Caroline and Schick, Tina and Hasler, Daniele and Meister, Gunter and Fleckenstein, Monika and Lindner, Moritz and Helbig, Horst and Fauser, Sascha and Weber, Bernhard H. F. (2014) A Circulating MicroRNA Profile Is Associated with Late-Stage Neovascular Age-Related Macular Degeneration. PLOS ONE, 9 (9): e107461. ISSN 1932-6203

H

Havlicek, Steven and Kohl, Zacharias and Mishra, Himanshu K. and Prots, Iryna and Eberhardt, Esther and Denguir, Naime and Wend, Holger and Ploetz, Sonja and Boyer, Leah and Marchetto, Maria C. N. and Aigner, Stefan and Sticht, Heinrich and Groemer, Teja W. and Hehr, Ute and Lampert, Angelika and Schloetzer-Schrehardt, Ursula and Winkler, Juergen and Gage, Fred H. and Winner, Beate (2014) Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients neurons. HUMAN MOLECULAR GENETICS, 23 (10). pp. 2527-2541. ISSN 0964-6906, 1460-2083

Hehr, Andreas and Frister, Helmut and Fondel, Sabine and Krauss, Susann and Zuehlke, Christine and Hellenbroich, Yorck and Hehr, Ute and Gillessen-Kaesbach, Gabriele (2014) Preimplantation genetic diagnosis. MEDIZINISCHE GENETIK, 26 (4). pp. 417-426. ISSN 1863-5490

Hehr, U. and Schoenbuchner, I. and Weber, B. H. F. (2014) Human genetic diagnostics in gynecological practice. GEORG THIEME VERLAG KG, STUTTGART.

K

Karlstetter, Marcus and Sorusch, Nasrin and Caramoy, Albert and Dannhausen, Katharina and Aslanidis, Alexander and Fauser, Sascha and Boesl, Michael R. and Nagel-Wolfrum, Kerstin and Tamm, Ernst R. and Jaegle, Herbert and Stoehr, Heidi and Wolfrum, Uwe and Langmann, Thomas (2014) Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. HUMAN MOLECULAR GENETICS, 23 (19). pp. 5197-5210. ISSN 0964-6906, 1460-2083

L

Lohr, Christian and Grosche, Antje and Reichenbach, Andreas and Hirnet, Daniela (2014) Purinergic neuron-glia interactions in sensory systems. SPRINGER HEIDELBERG, HEIDELBERG.

M

Micklisch, Sven and Karlstetter, Marcus and Schmoelz, Lisa and Dahse, Hans-Martin and Weber, Bernhard H. and Lorkowski, Stefan and Langmann, Thomas and Zipfel, Peter F. and Skerka, Christine (2014) Age related maculopathy susceptibility protein 2 (ARMS2) mediates opsonization of apoptotic cells. PERGAMON-ELSEVIER SCIENCE LTD, OXFORD.

P

Pannicke, T. and Frommherz, I. and Biedermann, B. and Wagner, L. and Sauer, K. and Ulbricht, E. and Haertig, W. and Kruegel, U. and Ueberham, U. and Arendt, T. and Illes, P. and Bringmann, A. and Reichenbach, A. and Grosche, A. (2014) Differential effects of P2Y(1) deletion on glial activation and survival of photoreceptors and amacrine cells in the ischemic mouse retina. CELL DEATH & DISEASE, 5: e1353. ISSN 2041-4889

Pauly, Diana and Nagel, Benedikt M. and Reinders, Joerg and Killian, Tobias and Wulf, Matthias and Ackermann, Susanne and Ehrenstein, Boris and Zipfel, Peter F. and Skerka, Christine and Weber, Bernhard H. F. (2014) A Novel Antibody against Human Properdin Inhibits the Alternative Complement System and Specifically Detects Properdin from Blood Samples. PLOS ONE, 9 (5): e96371. ISSN 1932-6203

Pilz, Peter and Meyer-Marcotty, Philipp and Eigenthaler, Martin and Roth, Helmut and Weber, Bernhard H. F. and Stellzig-Eisenhauer, Angelika (2014) Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene. JOURNAL OF OROFACIAL ORTHOPEDICS-FORTSCHRITTE DER KIEFERORTHOPADIE, 75 (3). pp. 226-238. ISSN 1434-5293, 1615-6714

Q

Qi, Jian Hua and Stoehr, Heidi and Anand-Apte, Bela (2014) Sorsby Fundus Dystrophy S156C-TIMP3 mutation promotes angiogenesis and choroidal neovascularization via a FGF receptor-1 signaling pathway. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

R

Ratnapriya, Rinki and Zhan, Xiaowei and Fariss, Robert N. and Branham, Kari E. and Zipprer, David and Chakarova, Christina F. and Sergeev, Yuri V. and Campos, Maria M. and Othman, Mohammad and Friedman, James S. and Maminishkis, Arvydas and Waseem, Naushin H. and Brooks, Matthew and Rajasimha, Harsha K. and Edwards, Albert O. and Lotery, Andrew and Klein, Barbara E. and Truitt, Barbara J. and Li, Bingshan and Schaumberg, Debra A. and Morgan, Denise J. and Morrison, Margaux A. and Souied, Eric and Tsironi, Evangelia E. and Grassmann, Felix and Fishman, Gerald A. and Silvestri, Giuliana and Scholl, Hendrik P. N. and Kim, Ivana K. and Ramke, Jacqueline and Tuo, Jingsheng and Merriam, Joanna E. and Merriam, John C. and Park, Kyu Hyung and Olson, Lana M. and Farrer, Lindsay A. and Johnson, Matthew P. and Peachey, Neal S. and Lathrop, Mark and Baron, Robert V. and Igo, Robert P. and Klein, Ronald and Hagstrom, Stephanie A. and Kamatani, Yoichiro and Martin, Tammy M. and Jiang, Yingda and Conley, Yvette and Sahel, Jose-Alan and Zack, Donald J. and Chan, Chi-Chao and Pericak-Vance, Margaret A. and Jacobson, Samuel G. and Gorin, Michael B. and Klein, Michael L. and Allikmets, Rando and Iyengar, Sudha K. and Weber, Bernhard H. and Haines, Jonathan L. and Leveillard, Thierry and Deangelis, Margaret M. and Stambolian, Dwight and Weeks, Daniel E. and Bhattacharya, Shomi S. and Chew, Emily Y. and Heckenlively, John R. and Abecasis, Goncalo R. and Swaroop, Anand (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. HUMAN MOLECULAR GENETICS, 23 (21). pp. 5827-5837. ISSN 0964-6906, 1460-2083

Roth, Helmut and Fritsche, Lars G. and Meier, Christoph and Pilz, Peter and Eigenthaler, Martin and Meyer-Marcotty, Philipp and Stellzig-Eisenhauer, Angelika and Proff, Peter and Kanno, Claudia M. and Weber, Bernhard H. F. (2014) Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. CLINICAL ORAL INVESTIGATIONS, 18 (2). pp. 377-384. ISSN 1432-6981, 1436-3771

S

Sanderson, Julie and Dartt, Darlene A. and Trinkaus-Randall, Vickery and Pintor, Jesus and Civan, Mortimer M. and Delamere, Nicholas A. and Fletcher, Erica L. and Salt, Thomas E. and Grosche, Antje and Mitchell, Claire H. (2014) Purines in the eye: Recent evidence for the physiological and pathological role of purines in the RPE, retinal neurons, astrocytes, Muller cells, lens, trabecular meshwork, cornea and lacrimal gland. ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, LONDON.

Schaefer, Nicole and Brandl, Caroline and Skerka, Christine and Weber, Bernhard H. and Pauly, Diana (2014) Investigation of human anti-CFH autoantibodies and mouse anti-CFHR3 monoclonal antibodies in age-related macular degeneration. PERGAMON-ELSEVIER SCIENCE LTD, OXFORD.

T

Tanimoto, Naoyuki and Akula, James D. and Fulton, Anne and Weber, Bernhard H. F. and Seeliger, Mathias W. (2014) Differentiating between Ischemic and Non-Ischemic Origins of the "Negative" Electroretinogram. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

W

Wagner, Lysann and Warwick, Rebekah A. and Pannicke, Thomas and Reichenbach, Andreas and Grosche, Antje and Hanani, Menachem (2014) Glutamate release from satellite glial cells of the murine trigeminal ganglion. NEUROSCIENCE LETTERS, 578. pp. 143-147. ISSN 0304-3940, 1872-7972

Weber, Bernhard H. F. and Holz, Frank G. (2014) The Role of the Complement System in Age-Related Macular Degeneration. DEUTSCHES ARZTEBLATT INTERNATIONAL, 111 (20). p. 366. ISSN 1866-0452

Weber, Bernhard H. F. and Issa, Peter Charbel and Pauly, Diana and Herrmann, Philipp and Grassmann, Felix and Holz, Frank G. (2014) The Role of the Complement System in Age-Related Macular Degeneration. DEUTSCHES ARZTEBLATT INTERNATIONAL, 111 (8). ISSN 1866-0452

Wieczorek, Dagmar and Newman, William G. and Wieland, Thomas and Berulava, Tea and Kaffe, Maria and Falkenstein, Daniela and Beetz, Christian and Graf, Elisabeth and Schwarzmayr, Thomas and Douzgou, Sofia and Clayton-Smith, Jill and Daly, Sarah B. and Williams, Simon G. and Bhaskar, Sanjeev S. and Urquhart, Jill E. and Anderson, Beverley and O'Sullivan, James and Boute, Odile and Gundlach, Jasmin and Czeschik, Johanna Christina and van Essen, Anthonie J. and Hazan, Filiz and Park, Sarah and Hing, Anne and Kuechler, Alma and Lohmann, Dietmar R. and Ludwig, Kerstin U. and Mangold, Elisabeth and Steenpass, Laura and Zeschnigk, Michael and Lemke, Johannes R. and Lourenco, Charles Marques and Hehr, Ute and Prott, Eva-Christina and Waldenberger, Melanie and Boehmer, Anne C. and Horsthemke, Bernhard and O'Keefe, Raymond T. and Meitinger, Thomas and Bum, John and Luedecke, Hermann-Josef and Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 95 (6). pp. 698-707. ISSN 0002-9297, 1537-6605