Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2018

B

Brandl, Caroline and Bruecklmayer, Christiane and Zimmermann, Martina E. and Guenther, Felix and Kuechenhoff, Helmut and Helbig, Horst and Weber, Bernhard H. F. and Heid, Iris M. and Stark, Klaus J. (2018) Retinal layer thicknesses in early age-related macular degeneration: results from the German AugUR-study. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

Brandl, Caroline and Weber, Bernhard H. F. (2018) Personalized Ophthalmology - Induced Pluripotent Stem Cells for In Vitro Modelling of Retinal Degenerative Diseases. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 235 (3). pp. 301-308. ISSN 0023-2165, 1439-3999

C

Cantsilieris, Stuart and Nelson, Bradley J. and Huddleston, John and Baker, Carl and Harshman, Lana and Penewit, Kelsi and Munson, Katherine M. and Sorensen, Melanie and Welch, AnneMarie E. and Dang, Vy and Grassmann, Felix and Richardson, Andrea J. and Guymer, Robyn H. and Graves-Lindsay, Tina A. and Wilson, Richard K. and Weber, Bernhard H. F. and Baird, Paul N. and Allikmets, Rando and Eichler, Evan E. (2018) Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 115 (19). E4433-E4442. ISSN 0027-8424

D

Dannhausen, Katharina and Moehle, Christoph and Langmann, Thomas (2018) Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. DISEASE MODELS & MECHANISMS, 11 (9): UNSP dmm03. ISSN 1754-8403, 1754-8411

Dittrich, Ralf and Kliesch, Sabine and Schuering, Andreas and Balcerek, Magdalena and Baston-Buest, Dunja M. and Beck, Ramona and Beckmann, Matthias W. and Behringer, Karolin and Borgmann-Staudt, Anja and Cremer, Wolfgang and Denzer, Christian and Diemer, Thorsten and Dorn, Almut and Fehm, Tanja and Gaase, Ruediger and Germeyer, Ariane and Geue, Kristina and Ghadjar, Pirus and Goeckenjan, Maren and Goette, Martin and Guth, Dagmar and Hauffa, Berthold P. and Hehr, Ute and Hetzer, Franc and Hirchenhain, Jens and Hoffmann, Wilfried and Hornemann, Beate and Jantke, Andreas and Kentenich, Heribert and Kiesel, Ludwig and Koehn, Frank-Michael and Korell, Matthias and Lax, Sigurd and Liebenthron, Jana and Lux, Michael and Meissner, Julia and Micke, Oliver and Nassar, Najib and Nawroth, Frank and Nordhoff, Verena and Ochsendorf, Falk and Oppelt, Patricia G. and Pelz, Joerg and Rau, Beate and Reisch, Nicole and Riesenbeck, Dorothea and Schlatt, Stefan and Sender, Annekathrin and Schwab, Roxana and Siedentopf, Friederike and Thorn, Petra and Wagner, Steffen and Wildt, Ludwig and Wimberger, Pauline and Wischmann, Tewes and von Wolff, Michael and Lotz, Laura (2018) Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) - Recommendations and Statements for Girls and Women. GEBURTSHILFE UND FRAUENHEILKUNDE, 78 (6). pp. 567-583. ISSN 0016-5751, 1438-8804

E

Elbracht, Miriam and Kraft, Florian and Begemann, Matthias and Holschbach, Petra and Mull, Michael and Kabat, Ildiko M. and Mueller, Britta and Haeusler, Martin and Kurth, Ingo and Hehr, Ute (2018) Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. MOLECULAR GENETICS & GENOMIC MEDICINE, 6 (6). pp. 1255-1260. ISSN 2324-9269

Engel, Christoph and Rhiem, Kerstin and Hahnen, Eric and Loibl, Sibylle and Weber, Karsten E. and Seiler, Sabine and Zachariae, Silke and Hauke, Jan and Wappenschmidt, Barbara and Waha, Anke and Bluemcke, Britta and Kiechle, Marion and Meindl, Alfons and Niederacher, Dieter and Bartram, Claus R. and Speiser, Dorothee and Schlegelberger, Brigitte and Arnold, Norbert and Wieacker, Peter and Leinert, Elena and Gehrig, Andrea and Briest, Susanne and Kast, Karin and Riess, Olaf and Emons, Guenter and Weber, Bernhard H. F. and Engel, Jutta and Schmutzler, Rita K. (2018) Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. BMC CANCER, 18: 265. ISSN 1471-2407

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Garces, Fabian and Jiang, Kailun and Molday, Laurie L. and Stoehr, Heidi and Weber, Bernhard H. and Lyons, Christopher J. and Maberley, David and Molday, Robert S. (2018) Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59 (6). pp. 2305-2315. ISSN 0146-0404, 1552-5783

Grassmann, Felix and Mengelkamp, Judith and Brandl, Caroline and Harsch, Sebastian and Zimmermann, Martina E. and Linkohr, Birgit and Peters, Annette and Heid, Iris M. and Palm, Christoph and Weber, Bernhard H. F. (2018) A Deep Learning Algorithm for Prediction of Age-Related Eye Disease Study Severity Scale for Age-Related Macular Degeneration from Color Fundus Photography. OPHTHALMOLOGY, 125 (9). pp. 1410-1420. ISSN 0161-6420, 1549-4713

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Hauke, Jan and Horvath, Judit and Gross, Eva and Gehrig, Andrea and Honisch, Ellen and Hackmann, Karl and Schmidt, Gunnar and Arnold, Norbert and Faust, Ulrike and Sutter, Christian and Hentschel, Julia and Wang-Gohrke, Shan and Smogavec, Mateja and Weber, Bernhard H. F. and Weber-Lassalle, Nana and Weber-Lassalle, Konstantin and Borde, Julika and Ernst, Corinna and Altmueller, Janine and Volk, Alexander E. and Thiele, Holger and Huebbel, Verena and Nuernberg, Peter and Keupp, Katharina and Versmold, Beatrix and Pohl, Esther and Kubisch, Christian and Grill, Sabine and Paul, Victoria and Herold, Natalie and Lichey, Nadine and Rhiem, Kerstin and Ditsch, Nina and Ruckert, Christian and Wappenschmidt, Barbara and Auber, Bernd and Rump, Andreas and Niederacher, Dieter and Haaf, Thomas and Ramser, Juliane and Dworniczak, Bernd and Engel, Christoph and Meindl, Alfons and Schmutzler, Rita K. and Hahnen, Eric (2018) Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. CANCER MEDICINE, 7 (4). pp. 1349-1358. ISSN 2045-7634

Hinreiner, Sophie and Wieczorek, Dagmar and Mueller, Dietmar and Roedl, Tanja and Thiel, Gundula and Grasshoff, Ute and Chaoui, Rabih and Hehr, Ute (2018) Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 178 (2). pp. 198-205. ISSN 1552-4868, 1552-4876

Hufendiek, Karsten and Brockmann, Dorothee and Ashurov, Agharza and Greb, Oliver and Neuhann, Teresa and Stoehr, Heidi and Hufendiek, Katerina and Framme, Carsten (2018) Clinical and Morphological Features in a Family with Congenital Cataract and Macular Hypoplasia. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Kaczmarek-Hajek, Karina and Zhang, Jiong and Kopp, Robin and Grosche, Antje and Rissiek, Bjoern and Saul, Anika and Bruzzone, Santina and Engel, Tobias and Jooss, Tina and Krautloher, Anna and Schuster, Stefanie and Magnus, Tim and Stadelmann, Christine and Sirko, Swetlana and Koch-Nolte, Friedrich and Eulenburg, Volker and Nicke, Annette (2018) Re-evaluation of neuronal P2X7 expression using novel mouse models and a P2X7-specific nanobody. ELIFE, 7: e36217. ISSN 2050-084X

Kellner, Ulrich and Stoehr, Heidi and Kellner, Simone and Weinitz, Silke and Farmand, Ghazaleh and Lindau, Birgit and Weber, Bernhard H. F. (2018) Molecular Genetic Screening In A Series Of 852 Patients With Inherited Retinal Dystrophies From One German Reference Center. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.

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Milenkovic, Andrea and Milenkovic, Vladimir M. and Wetzel, Christian H. and Weber, Bernhard H. F. (2018) BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. HUMAN MOLECULAR GENETICS, 27 (9). pp. 1630-1641. ISSN 0964-6906, 1460-2083

Mueller, Philipp L. and Pfau, Maximilian and Moeller, Philipp T. and Nadal, Jennifer and Schmid, Matthias and Lindner, Moritz and de Sisternes, Luis and Stohr, Heidi and Weber, Bernhard H. F. and Neuhaus, Christine and Herrmann, Philipp and Schmitz-Valckenberg, Steffen and Holz, Frank G. and Fleckenstein, Monika (2018) Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59 (4). AMD122-AMD131. ISSN 0146-0404, 1552-5783

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Ploessl, Karolina and Schmid, Verena and Straub, Kristina and Schmid, Carina and Ammon, Mirjam and Merkl, Rainer and Weber, Bernhard H. F. and Friedrich, Ulrike (2018) Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. EXPERIMENTAL EYE RESEARCH, 177. pp. 23-34. ISSN 0014-4835, 1096-0007

Pujol-Lereis, Luciana M. and Liebisch, Gerhard and Schick, Tina and Lin, Yuchen and Grassmann, Felix and Uchida, Koji and Zipfel, Peter F. and Fauser, Sascha and Skerka, Christine and Weber, Bernhard H. F. (2018) Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration. PLOS ONE, 13 (8). ISSN 1932-6203

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Rebbeck, Timothy R. and Friebel, Tara M. and Friedman, Eitan and Hamann, Ute and Huo, Dezheng and Kwong, Ava and Olah, Edith and Olopade, Olufunmilayo I. and Solano, Angela R. and Teo, Soo-Hwang and Thomassen, Mads and Weitzel, Jeffrey N. and Chan, T. L. and Couch, Fergus J. and Goldgar, David E. and Kruse, Torben A. and Palmero, Edenir Inez and Park, Sue Kyung and Torres, Diana and van Rensburg, Elizabeth J. and McGuffog, Lesley and Parsons, Michael T. and Leslie, Goska and Aalfs, Cora M. and Abugattas, Julio and Adlard, Julian and Agata, Simona and Aittomaki, Kristiina and Andrews, Lesley and Andrulis, Irene L. and Arason, Adalgeir and Arnold, Norbert and Arun, Banu K. and Asseryanis, Ella and Auerbach, Leo and Azzollini, Jacopo and Balmana, Judith and Barile, Monica and Barkardottir, Rosa B. and Barrowdale, Daniel and Benitez, Javier and Berger, Andreas and Berger, Raanan and Blanco, Amie M. and Blazer, Kathleen R. and Blok, Marinus J. and Bonadona, Valerie and Bonanni, Bernardo and Bradbury, Angela R. and Brewer, Carole and Buecher, Bruno and Buys, Saundra S. and Caldes, Trinidad and Caliebe, Almuth and Caligo, Maria A. and Campbell, Ian and Caputo, Sandrine M. and Chiquette, Jocelyne and Chung, Wendy K. and Claes, Kathleen B. M. and Collee, J. Margriet and Cook, Jackie and Davidson, Rosemarie and de la Hoya, Miguel and De Leeneer, Kim and de Pauw, Antoine and Delnatte, Capucine and Diez, Orland and Ding, Yuan Chun and Ditsch, Nina and Domchek, SusanM. and Dorfling, Cecilia M. and Velazquez, Carolina and Dworniczak, Bernd and Eason, Jacqueline and Easton, Douglas F. and Eeles, Ros and Ehrencrona, Hans and Ejlertsen, Bent and Engel, Christoph and Engert, Stefanie and Evans, D. Gareth and Faivre, Laurence and Feliubadalo, Lidia and Ferrer, Sandra Fert and Foretova, Lenka and Fowler, Jeffrey and Frost, Debra and Galvao, Henrique C. R. and Ganz, Patricia A. and Garber, Judy and Gauthier-Villars, Marion and Gehrig, Andrea and Gerdes, Anne-Marie and Gesta, Paul and Giannini, Giuseppe and Giraud, Sophie and Glendon, Gord and Godwin, Andrew K. and Greene, Mark H. and Gronwald, Jacek and Gutierrez-Barrera, Angelica and Hahnen, Eric and Hauke, Jan and Henderson, Alex and Hentschel, Julia and Hogervorst, Frans B. L. and Honisch, Ellen and Imyanitov, Evgeny N. and Isaacs, Claudine and Izatt, Louise and Izquierdo, Angel and Jakubowska, Anna and James, Paul and Janavicius, Ramunas and Jensen, Uffe Birk and John, Esther M. and Vijai, Joseph and Kaczmarek, Katarzyna and Karlan, Beth Y. and Kast, Karin and Kim, Sung-Won and Konstantopoulou, Irene and Korach, Jacob and Laitman, Yael and Lasa, Adriana and Lasset, Christine and Lazaro, Conxi and Lee, Annette and Lee, Min Hyuk and Lester, Jenny and Lesueur, Fabienne and Liljegren, Annelie and Lindor, Noralane M. and Longy, Michel and Loud, Jennifer T. and Lu, Karen H. and Lubinski, Jan and Machackova, Eva and Manoukian, Siranoush and Mari, Veronique and Martinez-Bouzas, Cristina and Matrai, Zoltan and Mebirouk, Noura and Meijers-Heijboer, Hanne E. J. and Meindl, Alfons and Mensenkamp, Arjen R. and Mickys, Ugnius and Miller, Austin and Montagna, Marco and Moysich, Kirsten B. and Mulligan, Anna Marie and Musinsky, Jacob and Neuhausen, Susan L. and Nevanlinna, Heli and Ngeow, Joanne and Nguyen, Huu Phuc and Niederacher, Dieter and Nielsen, Henriette Roed and Nielsen, Finn Cilius and Nussbaum, Robert L. and Offit, Kenneth and Ofverholm, Anna and Ong, Kai-ren and Osorio, Ana and Papi, Laura and Papp, Janos and Pasini, Barbara and Pedersen, Inge Sokilde and Peixoto, Ana and Peruga, Nina and Peterlongo, Paolo and Pohl, Esther and Pradhan, Nisha and Prajzendanc, Karolina and Prieur, Fabienne and Pujol, Pascal and Radice, Paolo and Ramus, Susan J. and Rantala, Johanna and Rashid, Muhammad Usman and Rhiem, Kerstin and Robson, Mark and Rodriguez, Gustavo C. and Rogers, Mark T. and Rudaitis, Vilius and Schmidt, Ane Y. and Schmutzler, Rita Katharina and Senter, Leigha and Shah, Payal D. and Sharma, Priyanka and Side, Lucy E. and Simard, Jacques and Singer, Christian F. and Skytte, Anne-Bine and Slavin, Thomas P. and Snape, Katie and Sobol, Hagay and Southey, Melissa and Steele, Linda and Steinemann, Doris and Sukiennicki, Grzegorz and Sutter, Christian and Szabo, Csilla I. and Tan, Yen Y. and Teixeira, Manuel R. and Terry, Mary Beth and Teule, Alex and Thomas, Abigail and Thull, Darcy L. and Tischkowitz, Marc and Tognazzo, Silvia and Toland, Amanda Ewart and Topka, Sabine and Trainer, Alison H. and Tung, Nadine and van Asperen, Christi J. and van der Hout, Annemieke H. and van der Kolk, Lizet E. and van der Luijt, Rob B. and Van Heetvelde, Mattias and Varesco, Liliana and Varon-Mateeva, Raymonda and Vega, Ana and Villarreal-Garza, Cynthia and von Wachenfeldt, Anna and Walker, Lisa and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Weber, Bernhard H. F. and Yannoukakos, Drakoulis and Yoon, Sook-Yee and Zanzottera, Cristina and Zidan, Jamal and Zorn, Kristin K. and Selkirk, Christina G. Hutten and Hulick, Peter J. and Chenevix-Trench, Georgia and Spurdle, Amanda B. and Antoniou, Antonis C. and Nathanson, Katherine L. (2018) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39 (5). pp. 593-620. ISSN 1059-7794, 1098-1004

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Strunz, Tobias and Grassmann, Felix and Gayan, Javier and Nahkuri, Satu and Souza-Costa, Debora and Maugeais, Cyrille and Fauser, Sascha and Nogoceke, Everson and Weber, Bernhard H. F. (2018) A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. SCIENTIFIC REPORTS, 8: 5865. ISSN 2045-2322