Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2012

A

Antoniou, Antonis C. and Kuchenbaecker, Karoline B. and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Lee, Andrew and Barrowdale, Daniel and Healey, Sue and Sinilnikova, Olga M. and Caligo, Maria A. and Loman, Niklas and Harbst, Katja and Lindblom, Annika and Arver, Brita and Rosenquist, Richard and Karlsson, Per and Nathanson, Kate and Domchek, Susan and Rebbeck, Tim and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Zlowowcka-Perlowska, Elzbieta and Osorio, Ana and Duran, Mercedes and Andres, Raquel and Benitez, Javier and Hamann, Ute and Hogervorst, Frans B. and van Os, Theo A. and Verhoef, Senno and Meijers-Heijboer, Hanne E. J. and Wijnen, Juul and Garcia, Encarna B. Gomez and Ligtenberg, Marjolijn J. and Kriege, Mieke and Collee, Margriet and Ausems, Margreet G. E. M. and Oosterwijk, Jan C. and Peock, Susan and Frost, Debra and Ellis, Steve D. and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Jacobs, Chris and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Cole, Trevor and Cook, Jackie and Paterson, Joan and Douglas, Fiona and Brewer, Carole and Hodgson, Shirley and Morrison, Patrick J. and Walker, Lisa and Rogers, Mark T. and Donaldson, Alan and Dorkins, Huw and Godwin, Andrew K. and Bove, Betsy and Stoppa-Lyonnet, Dominique and Houdayer, Claude and Buecher, Bruno and de Pauw, Antoine and Mazoyer, Sylvie and Calender, Alain and Leone, Melanie and Bressac-de Paillerets, Brigitte and Caron, Olivier and Sobol, Hagay and Frenay, Marc and Prieur, Fabienne and Ferrer, Sandra Fert and Mortemousque, Isabelle and Buys, Saundra and Daly, Mary and Miron, Alexander and Terry, Mary Beth and Hopper, John L. and John, Esther M. and Southey, Melissa and Goldgar, David and Singer, Christian F. and Fink-Retter, Anneliese and Tea, Muy-Kheng and Kaulich, Daphne Geschwantler and Hansen, Thomas V. O. and Nielsen, Finn C. and Barkardottir, Rosa B. and Gaudet, Mia and Kirchhoff, Tomas and Joseph, Vijai and Dutra-Clarke, Ana and Offit, Kenneth and Piedmonte, Marion and Kirk, Judy and Cohn, David and Hurteau, Jean and Byron, John and Fiorica, James and Toland, Amanda E. and Montagna, Marco and Oliani, Cristina and Imyanitov, Evgeny and Isaacs, Claudine and Tihomirova, Laima and Blanco, Ignacio and Lazaro, Conxi and Teule, Alex and Del Valle, J. and Gayther, Simon A. and Odunsi, Kunle and Gross, Jenny and Karlan, Beth Y. and Olah, Edith and Teo, Soo-Hwang and Ganz, Patricia A. and Beattie, Mary S. and Dorfling, Cecelia M. and van Rensburg, Elizabeth Jansen and Diez, Orland and Kwong, Ava and Schmutzler, Rita K. and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Heidemann, Simone and Niederacher, Dieter and Preisler-Adams, Sabine and Gadzicki, Dorothea and Varon-Mateeva, Raymonda and Deissler, Helmut and Gehrig, Andrea and Sutter, Christian and Kast, Karin and Fiebig, Britta and Schaefer, Dieter and Caldes, Trinidad and de la Hoya, Miguel and Nevanlinna, Heli and Muranen, Taru A. and Lesperance, Bernard and Spurdle, Amanda B. and Neuhausen, Susan L. and Ding, Yuan C. and Wang, Xianshu and Fredericksen, Zachary and Pankratz, Vernon S. and Lindor, Noralane M. and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Bonanni, Bernardo and Bernard, Loris and Dolcetti, Riccardo and Papi, Laura and Ottini, Laura and Radice, Paolo and Greene, Mark H. and Loud, Jennifer T. and Andrulis, Irene L. and Ozcelik, Hilmi and Mulligan, Anna Marie and Glendon, Gord and Thomassen, Mads and Gerdes, Anne-Marie and Jensen, Uffe B. and Skytte, Anne-Bine and Kruse, Torben A. and Chenevix-Trench, Georgia and Couch, Fergus J. and Simard, Jacques and Easton, Douglas F. (2012) Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. BREAST CANCER RESEARCH, 14 (1): R33. ISSN 1465-542X, 1465-5411

B

Baas, Dominique C. and Ho, Lintje and Tanck, Michael W. T. and Fritsche, Lars G. and Merriam, Joanna E. and Van het Slot, Ruben and Koeleman, Bobby P. C. and Gorgels, Theo G. M. F. and van Duijn, Cornelia M. and Uitterlinden, Andre G. and de Jong, Paulus T. V. M. and Hofman, Albert and ten Brink, Jacoline B. and Vingerling, Johannes R. and Klaver, Caroline C. W. and Dean, Michael and Weber, Bernhard H. F. and Allikmets, Rando and Hageman, Gregory S. and Bergen, Arthur A. B. (2012) Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration. MOLECULAR VISION, 18 (72). pp. 657-674. ISSN 1090-0535

C

Couch, Fergus J. and Gaudet, Mia M. and Antoniou, Antonis C. and Ramus, Susan J. and Kuchenbaecker, Karoline B. and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and Wang, Xianshu and Kirchhoff, Tomas and McGuffog, Lesley and Barrowdale, Daniel and Lee, Andrew and Healey, Sue and Sinilnikova, Olga M. and Andrulis, Irene L. and Ozcelik, Hilmi and Mulligan, Anna Marie and Thomassen, Mads and Gerdes, Anne-Marie and Jensen, Uffe Birk and Skytte, Anne-Bine and Kruse, Torben A. and Caligo, Maria A. and von Wachenfeldt, Anna and Barbany-Bustinza, Gisela and Loman, Niklas and Soller, Maria and Ehrencrona, Hans and Karlsson, Per and Nathanson, Katherine L. and Rebbeck, Timothy R. and Domchek, Susan M. and Jakubowska, Ania and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Zlowocka, Elzbieta and Huzarski, Tomasz and Byrski, Tomasz and Gronwald, Jacek and Cybulski, Cezary and Gorski, Bohdan and Osorio, Ana and Duran, Mercedes and Isabel Tejada, Maria and Benitez, Javier and Hamann, Ute and Hogervorst, Frans B. L. and van Os, Theo A. and van Leeuwen, Flora E. and Meijers-Heijboer, Hanne E. J. and Wijnen, Juul and Blok, Marinus J. and Kets, Marleen and Hooning, Maartje J. and Oldenburg, Rogier A. and Ausems, Margreet G. E. M. and Peock, Susan and Frost, Debra and Ellis, Steve D. and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Jacobs, Chris and Eeles, Rosalind A. and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana M. and Cole, Trevor and Cook, Jackie and Paterson, Joan and Brewer, Carole and Douglas, Fiona and Hodgson, Shirley V. and Morrison, Patrick J. and Walker, Lisa and Porteous, Mary E. and Kennedy, M. John and Side, Lucy E. and Bove, Betsy and Godwin, Andrew K. and Stoppa-Lyonnet, Dominique and Fassy-Colcombet, Marion and Castera, Laurent and Cornelis, Francois and Mazoyer, Sylvie and Leone, Melanie and Boutry-Kryza, Nadia and Bressac-de Paillerets, Brigitte and Caron, Olivier and Pujol, Pascal and Coupier, Isabelle and Delnatte, Capucine and Akloul, Linda and Lynch, Henry T. and Snyder, Carrie L. and Buys, Saundra S. and Daly, Mary B. and Terry, MaryBeth and Chung, Wendy K. and John, Esther M. and Miron, Alexander and Southey, Melissa C. and Hopper, John L. and Goldgar, David E. and Singer, Christian F. and Rappaport, Christine and Tea, Muy-Kheng M. and Fink-Retter, Anneliese and Hansen, Thomas V. O. and Nielsen, Finn C. and Arason, Adalgeir and Vijai, Joseph and Shah, Sohela and Sarrel, Kara and Robson, Mark E. and Piedmonte, Marion and Phillips, Kelly and Basil, Jack and Rubinstein, Wendy S. and Boggess, John and Wakeley, Katie and Ewart-Toland, Amanda and Montagna, Marco and Agata, Simona and Imyanitov, Evgeny N. and Isaacs, Claudine and Janavicius, Ramunas and Lazaro, Conxi and Blanco, Ignacio and Feliubadalo, Lidia and Brunet, Joan and Gayther, Simon A. and Pharoah, Paul P. D. and Odunsi, Kunle O. and Karlan, Beth Y. and Walsh, Christine S. and Olah, Edith and Teo, Soo Hwang and Ganz, Patricia A. and Beattie, Mary S. and van Rensburg, Elizabeth J. and Dorfling, Cecelia M. and Diez, Orland and Kwong, Ava and Schmutzler, Rita K. and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Heidemann, Simone and Niederacher, Dieter and Preisler-Adams, Sabine and Gadzicki, Dorothea and Varon-Mateeva, Raymonda and Deissler, Helmut and Gehrig, Andrea and Sutter, Christian and Kast, Karin and Fiebig, Britta and Heinritz, Wolfram and Caldes, Trinidad and de la Hoya, Miguel and Muranen, Taru A. and Nevanlinna, Heli and Tischkowitz, Marcd. and Spurdle, Amanda B. and Neuhausen, Susan L. and Ding, Yuan Chun and Lindor, Noralane M. and Fredericksen, Zachary and Pankratz, V. Shane and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Barile, Monica and Bernard, Loris and Viel, Alessandra and Giannini, Giuseppe and Varesco, Liliana and Radice, Paolo and Greene, Mark H. and Mai, Phuong L. and Easton, Douglas F. and Chenevix-Trench, Georgia and Offit, Kenneth and Simard, Jacques (2012) Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 21 (4). pp. 645-657. ISSN 1055-9965

D

Delgado, Diego and del Pozo-Rodriguez, Ana and Angeles Solinis, Maria and Aviles-Triqueros, Marcelino and Weber, Bernhard H. F. and Fernandez, Eduardo and Gascon, Alicia R. (2012) Dextran and Protamine-Based Solid Lipid Nanoparticles as Potential Vectors for the Treatment of X-Linked Juvenile Retinoschisis. HUMAN GENE THERAPY, 23 (4). pp. 345-355. ISSN 1043-0342

Dirscherl, Konstantin and Karlstetter, Marcus and Ebert, Stefanie and Kraus, Dominik and Hlawatsch, Julia and Walczak, Yana and Moehle, Christoph and Fuchshofer, Rudolf and Langmann, Thomas (2012) Erratum to: Luteolin triggers global changes in the microglial transcriptome leading to a unique anti-inflammatory and neuroprotective phenotype (vol 7, pg 3, 2010). JOURNAL OF NEUROINFLAMMATION, 9: 118. ISSN 1742-2094

Dogra, Gaurav and Purschke, Frauke G. and Wagner, Verena and Haslbeck, Martin and Kriehuber, Thomas and Hughes, Jonathan G. and Van Tassell, Maxwell L. and Gilbert, Crystal and Niemeyer, Melanie and Ray, W. Keith and Helm, Richard F. and Scharf, Birgit E. (2012) Sinorhizobium meliloti CheA Complexed with CheS Exhibits Enhanced Binding to CheY1, Resulting in Accelerated CheY1 Dephosphorylation. JOURNAL OF BACTERIOLOGY, 194 (5). pp. 1075-1087. ISSN 0021-9193, 1098-5530

E

Ebert, Stefanie and Walczak, Yana and Reme, Charlotte and Langmann, Thomas (2012) Microglial Activation and Transcriptomic Changes in the Blue Light-Exposed Mouse Retina. In: UNSPECIFIED Advances in Experimental Medicine and Biology,, 723 . SPRINGER-VERLAG BERLIN, BERLIN, pp. 619-632. ISBN 978-1-4614-0630-3

F

Fritsche, Lars G. and Fleckenstein, Monika and Fiebig, Britta S. and Schmitz-Valckenberg, Steffen and Bindewald-Wittich, Almut and Keilhauer, Claudia N. and Renner, Agnes B. and Mackensen, Friederike and Moessner, Andreas and Pauleikhoff, Daniel and Adrion, Christine and Mansmann, Ulrich and Scholl, Hendrik P. N. and Holz, Frank G. and Weber, Bernhard H. F. (2012) A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in the ABCA4 Gene. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 53 (4). pp. 2112-2118. ISSN 0146-0404

G

Grassmann, Felix and Fritsche, Lars G. and Keilhauer, Claudia N. and Heid, Iris M. and Weber, Bernhard H. F. (2012) Modelling the Genetic Risk in Age-Related Macular Degeneration. PLOS ONE, 7 (5): e37979. ISSN 1932-6203

Groesser, Leopold and Herschberger, Eva and Ruetten, Arno and Ruivenkamp, Claudia and Lopriore, Enrico and Zutt, Markus and Langmann, Thomas and Singer, Sebastian and Klingseisen, Laura and Schneider-Brachert, Wulf and Toll, Agusti and Real, Francisco X. and Landthaler, Michael and Hafner, Christian (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. NATURE GENETICS, 44 (7). 783-U211. ISSN 1061-4036

K

Karlstetter, M. and Langmann, T. (2012) Immune Mechanisms in Retinal Degeneration. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 229 (3). pp. 221-226. ISSN 0023-2165, 1439-3999

Kellner, U. and Renner, A. B. and Herbst, S. M. and Kellner, S. and Weinitz, S. and Weber, B. H. F. (2012) Ophthalmology up2date. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 229 (2). 170-+. ISSN 0023-2165

L

Lines, Matthew A. and Huang, Lijia and Schwartzentruber, Jeremy and Douglas, Stuart L. and Lynch, Danielle C. and Beaulieu, Chandree and Guion-Almeida, Maria Leine and Zechi-Ceide, Roseli Maria and Gener, Blanca and Gillessen-Kaesbach, Gabriele and Nava, Caroline and Baujat, Genevieve and Horn, Denise and Kini, Usha and Caliebe, Almuth and Alanay, Yasemin and Utine, Gulen Eda and Lev, Dorit and Kohlhase, Jurgen and Grix, Arthur W. and Lohmann, Dietmar R. and Hehr, Ute and Boehm, Detlef and Majewski, Jacek and Bulman, Dennis E. and Wieczorek, Dagmar and Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). pp. 369-377. ISSN 0002-9297, 1537-6605

M

Molday, Robert S. and Kellner, Ulrich and Weber, Bernhard H. F. (2012) X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms. PROGRESS IN RETINAL AND EYE RESEARCH, 31 (3). pp. 195-212. ISSN 1350-9462, 1873-1635

Moser, Christian and Lang, Sven A. and Hackl, Christina and Zhang, Hong and Lundgren, Karen and Hong, Victor and Mckenzie, Andres and Weber, Bernhard and Park, Jung S. and Schlitt, Hans J. and Geissler, Edward K. and Jung, Young D. and Stoeltzing, Oliver (2012) Oncogenic MST1R Activity in Pancreatic and Gastric Cancer Represents a Valid Target of HSP90 Inhibitors. ANTICANCER RESEARCH, 32 (2). pp. 427-437. ISSN 0250-7005, 1791-7530

R

Ramus, Susan J. and Antoniou, Antonis C. and Kuchenbaecker, Karoline B. and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Sinilnikova, Olga M. and Healey, Sue and Barrowdale, Daniel and Lee, Andrew and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A. and Jensen, Uffe Birk and Skytte, Anne-Bine and Caligo, Maria A. and Liljegren, Annelie and Lindblom, Annika and Olsson, Hakan and Kristoffersson, Ulf and Stenmark-Askmalm, Marie and Melin, Beatrice and Domchek, Susan M. and Nathanson, Katherine L. and Rebbeck, Timothy R. and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Zlowocka, Elzbieta and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Toloczko-Grabarek, Aleksandra and Osorio, Ana and Benitez, Javier and Duran, Mercedes and Tejada, Maria-Isabel and Hamann, Ute and Rookus, Matti and van Leeuwen, Flora E. and Aalfs, Cora M. and Meijers-Heijboer, Hanne E. J. and Van Asperen, Christi J. and Van Roozendaal, K. E. P. and Hoogerbrugge, Nicoline and Collee, J. Margriet and Kriege, Mieke and van der Luijt, Rob B. and Peock, Susan and Frost, Debra and Ellis, Steve D. and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Jacobs, Chris and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and Cook, Jackie and Paterson, Joan and Douglas, Fiona and Brewer, Carole and Hodgson, Shirley and Morrison, Patrick J. and Walker, Lisa and Porteous, Mary E. and Kennedy, M. John and Pathak, Harsh and Godwin, Andrew K. and Stoppa-Lyonnet, Dominique and Caux-Moncoutier, Virginie and de Pauw, Antoine and Gauthier-Villars, Marion and Mazoyer, Sylvie and Leone, Melanie and Calender, Alain and Lasset, Christine and Bonadona, Valerie and Hardouin, Agnes and Berthet, Pascaline and Bignon, Yves-Jean and Uhrhammer, Nancy and Faivre, Laurence and Loustalot, Catherine and Buys, Saundra and Daly, Mary and Miron, Alex and Terry, Mary Beth and Chung, Wendy K. and John, Esther M. and Southey, Melissa and Goldgar, David and Singer, Christian F. and Tea, Muy-Kheng and Pfeiler, Georg and Fink-Retter, Anneliese and Hansen, Thomas V. O. and Ejlertsen, Bent and Johannsson, Oskar Th. and Offit, Kenneth and Kirchhoff, Tomas and Gaudet, Mia M. and Vijai, Joseph and Robson, Mark and Piedmonte, Marion and Phillips, Kelly-Anne and Van Le, Linda and Hoffman, James S. and Toland, Amanda Ewart and Montagna, Marco and Tognazzo, Silvia and Imyanitov, Evgeny and Isaacs, Claudine and Janavicius, Ramunas and Lazaro, Conxi and Blanco, Ignacio and Tornero, Eva and Navarro, Matilde and Moysich, Kirsten B. and Karlan, Beth Y. and Gross, Jenny and Olah, Edith and Vaszko, Tibor and Teo, Soo-Hwang and Ganz, Patricia A. and Beattie, Mary S. and Dorfling, Cecelia M. and van Rensburg, Elizabeth J. and Diez, Orland and Kwong, Ava and Schmutzler, Rita K. and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Heidemann, Simone and Niederacher, Dieter and Preisler-Adams, Sabine and Gadzicki, Dorotehea and Varon-Mateeva, Raymonda and Deissler, Helmut and Gehrig, Andrea and Sutter, Christian and Kast, Karin and Fiebig, Britta and Schaefer, Dieter and Caldes, Trinidad and de la Hoya, Miguel and Nevanlinna, Heli and Aittomaki, Kristiina and Plante, Marie and Spurdle, Amanda B. and Neuhausen, Susan L. and Ding, Yuan Chun and Wang, Xianshu and Lindor, Noralane and Fredericksen, Zachary and Pankratz, V. Shane and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Bonanni, Bernardo and Bernard, Loris and Dolcetti, Riccardo and Papi, Laura and Ottini, Laura and Radice, Paolo and Greene, Mark H. and Mai, Phuong L. and Andrulis, Irene L. and Glendon, Gord and Ozcelik, Hilmi and Pharoah, Paul D. P. and Gayther, Simon A. and Simard, Jacques and Easton, Douglas F. and Couch, Fergus J. and Chenevix-Trench, Georgia (2012) Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers. HUMAN MUTATION, 33 (4). pp. 690-702. ISSN 1059-7794, 1098-1004

Renner, Agnes B. and Walter, Andreas and Fiebig, Britta S. and Jaegle, Herbert (2012) Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. DOCUMENTA OPHTHALMOLOGICA, 125 (1). pp. 81-89. ISSN 0012-4486, 1573-2622

S

Schlump, Jan-Ulrich and Stein, Anja and Hehr, Ute and Karen, Tanja and Moeller-Hartmann, Claudia and Elcioglu, Nursel H. and Bogdanova, Nadja and Woike, Hartmut Fritz and Lohmann, Dietmar R. and Felderhoff-Mueser, Ursula and Linz, Annette and Wieczorek, Dagmar (2012) Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. EUROPEAN JOURNAL OF PEDIATRICS, 171 (11). pp. 1611-1618. ISSN 0340-6199, 1432-1076

Sofat, Reecha and Casas, Juan P. and Webster, Andrew R. and Bird, Alan C. and Mann, Samantha S. and Yates, John R. W. and Moore, Anthony T. and Sepp, Tiina and Cipriani, Valentina and Bunce, Catey and Khan, Jane C. and Shahid, Humma and Swaroop, Anand and Abecasis, Goncalo and Branham, Kari E. H. and Zareparsi, Sepideh and Bergen, Arthur A. and Klaver, Caroline C. W. and Baas, Dominique C. and Zhang, Kang and Chen, Yuhong and Gibbs, Daniel and Weber, Bernhard H. F. and Keilhauer, Claudia N. and Fritsche, Lars G. and Lotery, Andrew and Cree, Angela J. and Griffiths, Helen L. and Bhattacharya, Shomi S. and Chen, Li L. and Jenkins, Sharon A. and Peto, Tunde and Lathrop, Mark and Leveillard, Thierry and Gorin, Michael B. and Weeks, Daniel E. and Ortube, Maria Carolina and Ferrell, Robert E. and Jakobsdottir, Johanna and Conley, Yvette P. and Rahu, Mati and Seland, Johan H. and Soubrane, Gisele and Topouzis, Fotis and Vioque, Jesus and Tomazzoli, Laura and Young, Ian and Whittaker, John and Chakravarthy, Usha and de Jong, Paulus T. V. M. and Smeeth, Liam and Fletcher, Astrid and Hingorani, Aroon D. (2012) Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 41 (1). pp. 250-262. ISSN 0300-5771

Solomon, Benjamin D. and Bear, Kelly A. and Wyllie, Adrian and Keaton, Amelia A. and Dubourg, Christele and David, Veronique and Mercier, Sandra and Odent, Sylvie and Hehr, Ute and Paulussen, Aimee and Clegg, Nancy J. and Delgado, Mauricio R. and Bale, Sherri J. and Lacbawan, Felicitas and Ardinger, Holly H. and Aylsworth, Arthur S. and Bhengu, Ntombenhle Louisa and Braddock, Stephen and Brookhyser, Karen and Burton, Barbara and Gaspar, Harald and Grix, Art and Horovitz, Dafne and Kanetzke, Erin and Kayserili, Hulya and Lev, Dorit and Nikkel, Sarah M. and Norton, Mary and Roberts, Richard and Saal, Howard and Schaefer, G. B. and Schneider, Adele and Smith, Erika K. and Sowry, Ellen and Spence, M. Anne and Shalev, Stavit A. and Steiner, Carlos E. and Thompson, Elizabeth M. and Winder, Thomas L. and Balog, Joan Z. and Hadley, Donald W. and Zhou, Nan and Pineda-Alvarez, Daniel E. and Roessler, Erich and Muenke, Maximilian (2012) Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. JOURNAL OF MEDICAL GENETICS, 49 (7). pp. 473-479. ISSN 0022-2593

Stoehr, Heidi and Anand-Apte, Bela (2012) A Review and Update on the Molecular Basis of Pathogenesis of Sorsby Fundus Dystrophy. In: UNSPECIFIED Advances in Experimental Medicine and Biology,, 723 . SPRINGER-VERLAG BERLIN, BERLIN, pp. 261-267. ISBN 978-1-4614-0630-3

Z

Zach, Frank and Grassmann, Felix and Langmann, Thomas and Sorusch, Nasrin and Wolfrum, Uwe and Stoehr, Heidi (2012) The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. HUMAN MOLECULAR GENETICS, 21 (21). pp. 4573-4586. ISSN 0964-6906, 1460-2083

Zhour, Ahmad and Bolz, Sylvia and Grimm, Christian and Willmann, Gabriel and Schatz, Andreas and Weber, Bernhard H. F. and Zrenner, Eberhart and Fischer, M. Dominik (2012) In vivo imaging reveals novel aspects of retinal disease progression in Rs1h-/Y mice but no therapeutic effect of carbonic anhydrase inhibition. VETERINARY OPHTHALMOLOGY, 15. pp. 123-133. ISSN 1463-5216