Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus

por Fars, Julien, Pasutto, Francesca, Kremers, Jan, Huchzermeyer, Cord
Publicado 2021

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

por Souzeau, Emmanuelle, Weisschuh, Nicole, Craig, Jamie E., Pasutto, Francesca, Koch, Karl-Wilhelm
Publicado 2021

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

por Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2010

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

por Uebe, Steffen, Pasutto, Francesca, Krumbiegel, Mandy, Schanze, Denny, Ekici, Arif B, Reis, André
Publicado 2010

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study

por Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Reinthal, Eva, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2009

Impact of single nucleotide polymorphisms in the VEGFR2 gene on endothelial cell activation under non-uniform shear stress

por Schacher, Nora M., Raaz-Schrauder, Dorette, Pasutto, Francesca, Stumpfe, Florian M., Tauchi, Miyuki, Dietel, Barbara, Achenbach, Stephan, Urschel, Katharina
Publicado 2019

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

por Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, André, Pasutto, Francesca
Publicado 2016

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

por Souzeau, Emmanuelle, Siggs, Owen M., Pasutto, Francesca, Knight, Lachlan S. W., Perez‐Jurado, Luis A., McGregor, Lesley, Le Blanc, Shannon, Barnett, Christopher P., Liebelt, Jan, Craig, Jamie E.
Publicado 2020

Dysregulated Retinoic Acid Signaling in the Pathogenesis of Pseudoexfoliation Syndrome

por Zenkel, Matthias, Hoja, Ursula, Gießl, Andreas, Berner, Daniel, Hohberger, Bettina, Weller, Julia M., König, Loretta, Hübner, Lisa, Ostermann, Thomas A., Gusek-Schneider, Gabriele C., Kruse, Friedrich E., Pasutto, Francesca, Schlötzer-Schrehardt, Ursula
Publicado 2022

Absence of NR2E1 mutations in patients with aniridia

por Corso-Díaz, Ximena, Borrie, Adrienne E., Bonaguro, Russell, Schuetz, Johanna M., Rosenberg, Thomas, Jensen, Hanne, Brooks, Brian P., MacDonald, Ian M., Pasutto, Francesca, Walter, Michael A., Grønskov, Karen, Brooks-Wilson, Angela, Simpson, Elizabeth M.
Publicado 2012

Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome

por Hirbo, Jibril B., Pasutto, Francesca, Gamazon, Eric R., Evans, Patrick, Pawar, Priyanka, Berner, Daniel, Sealock, Julia, Tao, Ran, Straub, Peter S., Konkashbaev, Anuar I., Breyer, Max A., Schlötzer-Schrehardt, Ursula, Reis, André, Brantley, Milam A., Khor, Chiea C., Joos, Karen M., Cox, Nancy J.
Publicado 2023

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

por Pasutto, Francesca, Zenkel, Matthias, Hoja, Ursula, Berner, Daniel, Uebe, Steffen, Ferrazzi, Fulvia, Schödel, Johannes, Liravi, Panah, Ozaki, Mineo, Paoli, Daniela, Frezzotti, Paolo, Mizoguchi, Takanori, Nakano, Satoko, Kubota, Toshiaki, Manabe, Shinichi, Salvi, Erika, Manunta, Paolo, Cusi, Daniele, Gieger, Christian, Wichmann, Heinz-Erich, Aung, Tin, Khor, Chiea Chuen, Kruse, Friedrich E., Reis, André, Schlötzer-Schrehardt, Ursula
Publicado 2017

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado 2009

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael Werner, Stassart, Ruth Martha, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado 2009

The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

por Berner, Daniel, Hoja, Ursula, Zenkel, Matthias, Ross, James Julian, Uebe, Steffen, Paoli, Daniela, Frezzotti, Paolo, Rautenbach, Robyn M, Ziskind, Ari, Williams, Susan E, Carmichael, Trevor R, Ramsay, Michele, Topouzis, Fotis, Chatzikyriakidou, Anthi, Lambropoulos, Alexandros, Sundaresan, Periasamy, Ayub, Humaira, Akhtar, Farah, Qamar, Raheel, Zenteno, Juan C, Cruz-Aguilar, Marisa, Astakhov, Yury S, Dubina, Michael, Wiggs, Janey, Ozaki, Mineo, Kruse, Friedrich E, Aung, Tin, Reis, André, Khor, Chiea Chuen, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula
Publicado 2019

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

por Han, Xikun, Gharahkhani, Puya, Hamel, Andrew R., Ong, Jue Sheng, Rentería, Miguel E., Mehta, Puja, Dong, Xianjun, Pasutto, Francesca, Hammond, Christopher, Young, Terri L., Hysi, Pirro, Lotery, Andrew J., Jorgenson, Eric, Choquet, Hélène, Hauser, Michael, Cooke Bailey, Jessica N., Nakazawa, Toru, Akiyama, Masato, Shiga, Yukihiro, Fuller, Zachary L., Wang, Xin, Hewitt, Alex W., Craig, Jamie E., Pasquale, Louis R., Mackey, David A., Wiggs, Janey L., Khawaja, Anthony P., Segrè, Ayellet V., MacGregor, Stuart
Publicado 2023

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

por van Koolwijk, Leonieke M. E., Ramdas, Wishal D., Ikram, M. Kamran, Jansonius, Nomdo M., Pasutto, Francesca, Hysi, Pirro G., Macgregor, Stuart, Janssen, Sarah F., Hewitt, Alex W., Viswanathan, Ananth C., ten Brink, Jacoline B., Hosseini, S. Mohsen, Amin, Najaf, Despriet, Dominiek D. G., Willemse-Assink, Jacqueline J. M., Kramer, Rogier, Rivadeneira, Fernando, Struchalin, Maksim, Aulchenko, Yurii S., Weisschuh, Nicole, Zenkel, Matthias, Mardin, Christian Y., Gramer, Eugen, Welge-Lüssen, Ulrich, Montgomery, Grant W., Carbonaro, Francis, Young, Terri L., Bellenguez, Céline, McGuffin, Peter, Foster, Paul J., Topouzis, Fotis, Mitchell, Paul, Wang, Jie Jin, Wong, Tien Y., Czudowska, Monika A., Hofman, Albert, Uitterlinden, Andre G., Wolfs, Roger C. W., de Jong, Paulus T. V. M., Oostra, Ben A., Paterson, Andrew D., Mackey, David A., Bergen, Arthur A. B., Reis, André, Hammond, Christopher J., Vingerling, Johannes R., Lemij, Hans G., Klaver, Caroline C. W., van Duijn, Cornelia M.
Publicado 2012

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

por Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P., Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W., Segrè, Ayellet V., Rouhana, John M., Hamel, Andrew R., Igo, Robert P., Choquet, Helene, Qassim, Ayub, Josyula, Navya S., Cooke Bailey, Jessica N., Bonnemaijer, Pieter W. M., Iglesias, Adriana, Siggs, Owen M., Young, Terri L., Vitart, Veronique, Thiadens, Alberta A. H. J., Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B., Nair, K. Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J., Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K., Martin, Nicholas G., Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E., Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J., Khaw, Peng T., Morgan, James E., Strouthidis, Nicholas G., Kraft, Peter, Kang, Jae H., Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J., Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L., Hammond, Chris, Pasquale, Louis R., Klaver, Caroline C. W., Hauser, Michael, Khor, Chiea Chuen, Mackey, David A., Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E., MacGregor, Stuart, Wiggs, Janey L.
Publicado 2021