Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2013

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Abecasis, Goncalo and Schu, Matthew and Zhan, Xiaowei and Arumugam, Sivakumaram and Gresham, Jennifer Bragg and Fritsche, Lars (2013) Chipping Away At The Genetics of Age Related Macular Degeneration. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Couch, Fergus J. and Wang, Xianshu and McGuffog, Lesley and Lee, Andrew and Olswold, Curtis and Kuchenbaecker, Karoline B. and Soucy, Penny and Fredericksen, Zachary and Barrowdale, Daniel and Dennis, Joe and Gaudet, Mia M. and Dicks, Ed and Kosel, Matthew and Healey, Sue and Sinilnikova, Olga M. and Lee, Adam and Bacot, Francois and Vincent, Daniel and Hogervorst, Frans B. L. and Peock, Susan and Stoppa-Lyonnet, Dominique and Jakubowska, Anna and Radice, Paolo and Schmutzler, Rita Katharina and Domchek, Susan M. and Piedmonte, Marion and Singer, Christian F. and Friedman, Eitan and Thomassen, Mads and Hansen, Thomas V. O. and Neuhausen, Susan L. and Szabo, Csilla I. and Blanco, Ignacio and Greene, Mark H. and Karlan, Beth Y. and Garber, Judy and Phelan, Catherine M. and Weitzel, Jeffrey N. and Montagna, Marco and Olah, Edith and Andrulis, Irene L. and Godwin, Andrew K. and Yannoukakos, Drakoulis and Goldgar, David E. and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and Terry, Mary Beth and Daly, Mary B. and van Rensburg, Elizabeth J. and Hamann, Ute and Ramus, Susan J. and Toland, Amanda Ewart and Caligo, Maria A. and Olopade, Olufunmilayo I. and Tung, Nadine and Claes, Kathleen and Beattie, Mary S. and Southey, Melissa C. and Imyanitov, Evgeny N. and Tischkowitz, Marc and Janavicius, Ramunas and John, Esther M. and Kwong, Ava and Diez, Orland and Balmana, Judith and Barkardottir, Rosa B. and Arun, Banu K. and Rennert, Gad and Teo, Soo-Hwang and Ganz, Patricia A. and Campbell, Ian and van der Hout, Annemarie H. and van Deurzen, Carolien H. M. and Seynaeve, Caroline and Garcia, Encarna B. Gomez and van Leeuwen, Flora E. and Meijers-Heijboer, Hanne E. J. and Gille, Johannes J. P. and Ausems, Margreet G. E. M. and Blok, Marinus J. and Ligtenberg, Marjolijn J. L. and Rookus, Matti A. and Devilee, Peter and Verhoef, Senno and van Os, Theo A. M. and Wijnen, Juul T. and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Izatt, Louise and Eeles, Rosalind A. and Adlard, Julian and Eccles, Diana M. and Cook, Jackie and Brewer, Carole and Douglas, Fiona and Hodgson, Shirley and Morrison, Patrick J. and Side, Lucy E. and Donaldson, Alan and Houghton, Catherine and Rogers, Mark T. and Dorkins, Huw and Eason, Jacqueline and Gregory, Helen and McCann, Emma and Murray, Alex and Calender, Alain and Hardouin, Agnes and Berthet, Pascaline and Delnatte, Capucine and Nogues, Catherine and Lasset, Christine and Houdayer, Claude and Leroux, Dominique and Rouleau, Etienne and Prieur, Fabienne and Damiola, Francesca and Sobol, Hagay and Coupier, Isabelle and Venat-Bouvet, Laurence and Castera, Laurent and Gauthier-Villars, Marion and Leone, Melanie and Pujol, Pascal and Mazoyer, Sylvie and Bignon, Yves-Jean and Zlowocka-Perlowska, Elzbieta and Gronwald, Jacek and Lubinski, Jan and Durda, Katarzyna and Jaworska, Katarzyna and Huzarski, Tomasz and Spurdle, Amanda B. and Viel, Alessandra and Peissel, Bernard and Bonanni, Bernardo and Melloni, Giulia and Ottini, Laura and Papi, Laura and Varesco, Liliana and Tibiletti, Maria Grazia and Peterlongo, Paolo and Volorio, Sara and Manoukian, Siranoush and Pensotti, Valeria and Arnold, Norbert and Engel, Christoph and Deissler, Helmut and Gadzicki, Dorothea and Gehrig, Andrea and Kast, Karin and Rhiem, Kerstin and Meindl, Alfons and Niederacher, Dieter and Ditsch, Nina and Plendl, Hansjoerg and Preisler-Adams, Sabine and Engert, Stefanie and Sutter, Christian and Varon-Mateeva, Raymonda and Wappenschmidt, Barbara and Weber, Bernhard H. F. and Arver, Brita and Stenmark-Askmalm, Marie and Loman, Niklas and Rosenquist, Richard and Einbeigi, Zakaria and Nathanson, Katherine L. and Rebbeck, Timothy R. and Blank, Stephanie V. and Cohn, David E. and Rodriguez, Gustavo C. and Small, Laurie and Friedlander, Michael and Bae-Jump, Victoria L. and Fink-Retter, Anneliese and Rappaport, Christine and Gschwantler-Kaulich, Daphne and Pfeiler, Georg and Tea, Muy-Kheng and Lindor, Noralane M. and Kaufman, Bella and Paluch, Shani Shimon and Laitman, Yael and Skytte, Anne-Bine and Gerdes, Anne-Marie and Pedersen, Inge Sokilde and Moeller, Sanne Traasdahl and Kruse, Torben A. and Jensen, Uffe Birk and Vijai, Joseph and Sarrel, Kara and Robson, Mark and Kauff, Noah and Mulligan, Anna Marie and Glendon, Gord and Ozcelik, Hilmi and Ejlertsen, Bent and Nielsen, Finn C. and Jonson, Lars and Andersen, Mette K. and Ding, Yuan Chun and Steele, Linda and Foretova, Lenka and Teule, Alex and Lazaro, Conxi and Brunet, Joan and Angel Pujana, Miquel and Mai, Phuong L. and Loud, Jennifer T. and Walsh, Christine and Lester, Jenny and Orsulic, Sandra and Narod, Steven A. and Herzog, Josef and Sand, Sharon R. and Tognazzo, Silvia and Agata, Simona and Vaszko, Tibor and Weaver, Joellen and Stavropoulou, Alexandra V. and Buys, Saundra S. and Romero, Atocha and de la Hoya, Miguel and Aittomaki, Kristiina and Muranen, Taru A. and Duran, Mercedes and Chung, Wendy K. and Lasa, Adriana and Dorfling, Cecilia M. and Miron, Alexander and Benitez, Javier and Senter, Leigha and Huo, Dezheng and Chan, Salina B. and Sokolenko, Anna P. and Chiquette, Jocelyne and Tihomirova, Laima and Friebel, Tara M. and Agnarsson, Bjarni A. and Lu, Karen H. and Lejbkowicz, Flavio and James, Paul A. and Hall, Per and Dunning, Alison M. and Tessier, Daniel and Cunningham, Julie and Slager, Susan L. and Wang, Chen and Hart, Steven and Stevens, Kristen and Simard, Jacques and Pastinen, Tomi and Pankratz, Vernon S. and Offit, Kenneth and Easton, Douglas F. and Chenevix-Trench, Georgia and Antoniou, Antonis C. (2013) Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk. PLOS GENETICS, 9 (3): e1003212. ISSN 1553-7404

Cushion, Thomas D. and Dobyns, William B. and Mullins, Jonathan G. L. and Stoodley, Neil and Chung, Seo-Kyung and Fry, Andrew E. and Hehr, Ute and Gunny, Roxana and Aylsworth, Arthur S. and Prabhakar, Prab and Uyanik, Goekhan and Rankin, Julia and Rees, Mark I. and Pilz, Daniela T. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. BRAIN, 136. pp. 536-548. ISSN 0006-8950, 1460-2156

Cutler, Alecia and Anand-Apte, Bela and Bonilha, Vera and Hatipoglu, Dilara and Stoehr, Heidi (2013) Hyaluronan and Tissue Inhibitor of Metalloproteinases-3 in Sorsby's Fundus Dystrophy and AMD. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Czeschik, J. C. and Voigt, C. and Alanay, Y. and Albrecht, B. and Avci, S. and FitzPatrick, D. and Goudie, D. R. and Hehr, U. and Hoogeboom, A. J. and Kayserili, H. and Simsek-Kiper, P. O. and Klein-Hitpass, L. and Kuechler, A. and Lopez-Gonzalez, V. and Martin, M. and Rahmann, S. and Schweiger, B. and Splitt, M. and Wollnik, B. and Luedecke, H-J and Zeschnigk, M. and Wieczorek, D. (2013) Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. HUMAN GENETICS, 132 (8). pp. 885-898. ISSN 0340-6717

Czeschik, Johanna Christina and Hehr, Ute and Hartmann, Britta and Luedecke, Hermann-Josef and Rosenbaum, Thorsten and Schweiger, Bernd and Wieczorek, Dagmar (2013) 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS, 56 (12). pp. 689-694. ISSN 1769-7212, 1878-0849

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Dammann, Philipp and Hehr, Ute and Weidensee, Sabine and Zhu, Yuan and Gerlach, Ruediger and Sure, Ulrich (2013) Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation. NEUROSURGICAL REVIEW, 36 (3). pp. 483-486. ISSN 0344-5607, 1437-2320

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Geis, Tobias and Marquard, Klaus and Roedl, Tanja and Reihle, Christof and Schirmer, Sophie and von Kalle, Thekla and Bornemann, Antje and Hehr, Ute and Blankenburg, Markus (2013) Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. NEUROGENETICS, 14 (3-4). pp. 205-213. ISSN 1364-6745, 1364-6753

Groh, Janos and Kuehl, Thomas G. and Ip, Chi Wang and Nelvagal, Hemanth R. and Sri, Sarmi and Duckett, Steven and Mirza, Myriam and Langmann, Thomas and Cooper, Jonathan D. and Martini, Rudolf (2013) Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. BRAIN, 136. pp. 1083-1101. ISSN 0006-8950, 1460-2156

Grosche, Antje and Grosche, Jens and Tackenberg, Mark and Scheller, Dorit and Gerstner, Gwendolyn and Gumprecht, Annett and Pannicke, Thomas and Hirrlinger, Petra G. and Wilhelmsson, Ulrika and Huettmann, Kerstin and Haertig, Wolfgang and Steinhaeuser, Christian and Pekny, Milos and Reichenbach, Andreas (2013) Versatile and Simple Approach to Determine Astrocyte Territories in Mouse Neocortex and Hippocampus. PLOS ONE, 8 (7): e69143. ISSN 1932-6203

Grosche, Antje and Pannicke, Thomas and Chen, Ju and Wiedemann, Peter and Reichenbach, Andreas and Bringmann, Andreas (2013) Disruption of Endogenous Purinergic Signaling Inhibits Vascular Endothelial Growth Factor- and Glutamate-Induced Osmotic Volume Regulation of Muller Glial Cells in Knockout Mice. OPHTHALMIC RESEARCH, 50 (4). pp. 209-214. ISSN 0030-3747, 1423-0259

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Hehr, A. and Gassner, C. and Paulmann, B. and Kowalzyk, Z. and Klatt, M. and Krauss, S. and Seifert, D. and Seifert, B. and Hehr, U. (2013) PGD for monogenic disorders on polar bodies (PBD) - impact of clinical parameters on PBD outcome. OXFORD UNIV PRESS, OXFORD.

Hlawatsch, Julia and Karlstetter, Marcus and Aslanidis, Alexander and Lueckoff, Anika and Walczak, Yana and Plank, Michael and Boeck, Julia and Langmann, Thomas (2013) Sterile Alpha Motif Containing 7 (Samd7) Is a Novel Crx-Regulated Transcriptional Repressor in the Retina. PLOS ONE, 8 (4): e60633. ISSN 1932-6203

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Jang, Geeng-Fu and Cutler, Alecia and Zhang, Lei and Crabb, John and Stoehr, Heidi and Anand-Apte, Bela (2013) Quantitative Proteomic Analysis of TIMP3 Dysfunction. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Kasper, B. S. and Chang, B. S. and Kurzbuch, K. and Pauli, E. and Hehr, U. (2013) X-LINKED PERIVENTRICULAR NODULAR HETEROTOPIA DUE TO FLNA-MUTATION INHERITED BY THE FATHER. WILEY-BLACKWELL, HOBOKEN.

Kasper, Burkhard S. and Kurzbuch, Katrin and Chang, Bernard S. and Pauli, Elisabeth and Hamer, Hajo M. and Winkler, Juergen and Hehr, Ute (2013) Paternal Inheritance of Classic X-linked Bilateral Periventricular Nodular Heterotopia. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161A (6). pp. 1323-1328. ISSN 1552-4825

Keilhauer, Claudia N. and Fritsche, Lars G. and Guthoff, Rainer and Haubitz, Imme and Weber, Bernhard H. (2013) Age-related macular degeneration and coronary heart disease: Evaluation of genetic and environmental associations. EUROPEAN JOURNAL OF MEDICAL GENETICS, 56 (2). pp. 72-79. ISSN 1769-7212

Kellner, Ulrich and Kellner, Simone and Weinitz, Silke and Farmand, Gazaleh and Stoehr, Heidi and Weber, Bernhard (2013) Follow-up Of 36 Years In Autosomal Dominant Gyrate-Atrophy Like Choroidal Dystrophy. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Langmann, Thomas and Moehle, Christoph and Karlstetter, Marcus and Weber, Bernhard (2013) Loss of MicroRNA-124 and MicroRNA-126 expression regulates inflammatory microglial activation in inherited retinal degeneration. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Mirza, Myriam and Volz, Cornelia and Jaegle, Herbert and Langmann, Thomas (2013) Curcumin, Luteolin and DHA Supplementation Abates Microglia Activation and Retinal Degeneration in the CLN6(nclf) Neuronal Ceroid Lipofuscinosis Mouse Model. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Pauly, D. and Nagel, B. M. and Schaefer, N. and Weber, B. H. F. (2013) The role of Properdin in the development and progression of age-related macular degeneration. PERGAMON-ELSEVIER SCIENCE LTD, OXFORD.

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Schreml, Stephan and Weber, B. H. and Schroeder, J. and Siegmund, H. and Schaller, J. and Vogt, T. and Landthaler, M. and Schoenbuchner, I. and Roecken, C. and Babilas, P. (2013) Familial primary localized cutaneous amyloidosis with an oncostatin M receptor-beta mutation, Pro694Leu. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 38 (8). pp. 932-935. ISSN 0307-6938, 1365-2230

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Voigt, Claudia and Megarbane, Andre and Neveling, Kornelia and Czeschik, Johanna Christina and Albrecht, Beate and Callewaert, Bert and von Deimling, Florian and Hehr, Andreas and Smeland, Marie Falkenberg and Konig, Rainer and Kuechler, Alma and Marcelis, Carlo and Puiu, Maria and Reardon, Willie and Stensland, Hilde Monica Frostad Riise and Schweiger, Bernd and Steehouwer, Marloes and Teller, Christopher and Martin, Marcel and Rahmann, Sven and Hehr, Ute and Brunner, Han G. and Ludecke, Hermann-Josef and Wieczorek, Dagmar (2013) Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. ORPHANET JOURNAL OF RARE DISEASES, 8: 110. ISSN 1750-1172

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Zhan, Xiaowei and Larson, David E. and Wang, Chaolong and Koboldt, Daniel C. and Sergeev, Yuri V. and Fulton, Robert S. and Fulton, Lucinda L. and Fronick, Catrina C. and Branham, Kari E. and Bragg-Gresham, Jennifer and Jun, Goo and Hu, Youna and Kang, Hyun Min and Liu, Dajiang and Othman, Mohammad and Brooks, Matthew and Ratnapriya, Rinki and Boleda, Alexis and Grassmann, Felix and von Strachwitz, Claudia and Olson, Lana M. and Buitendijk, Gabrielle H. S. and Hofman, Albert and van Duijn, Cornelia M. and Cipriani, Valentina and Moore, Anthony T. and Shahid, Humma and Jiang, Yingda and Conley, Yvette P. and Morgan, Denise J. and Kim, Ivana K. and Johnson, Matthew P. and Cantsilieris, Stuart and Richardson, Andrea J. and Guymer, Robyn H. and Luo, Hongrong and Ouyang, Hong and Licht, Christoph and Pluthero, Fred G. and Zhang, Mindy M. and Zhang, Kang and Baird, Paul N. and Blangero, John and Klein, Michael L. and Farrer, Lindsay A. and DeAngelis, Margaret M. and Weeks, Daniel E. and Gorin, Michael B. and Yates, John R. W. and Klaver, Caroline C. W. and Pericak-Vance, Margaret A. and Haines, Jonathan L. and Weber, Bernhard H. F. and Wilson, Richard K. and Heckenlively, John R. and Chew, Emily Y. and Stambolian, Dwight and Mardis, Elaine R. and Swaroop, Anand and Abecasis, Goncalo R. (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. NATURE GENETICS, 45 (11). 1375-+. ISSN 1061-4036, 1546-1718

Zollbrecht, Christa and Grassl, Martina and Fenk, Sabine and Hoecherl, Regina and Hubauer, Ute and Reinhard, Wibke and Esslinger, Ulrike B. and Ebert, Stefanie and Langmann, Thomas and Stark, Klaus and Hengstenberg, Christian (2013) Expression pattern in human macrophages dependent on 9p21.3 coronary artery disease risk locus. ATHEROSCLEROSIS, 227 (2). pp. 244-249. ISSN 0021-9150