Résultats de la recherche - Vincent, Andrea L.
- Résultat(s) 1 - 18 résultats de 18
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Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant par Vincent, Andrea L., Jordan, Charlotte, Sheck, Leo, Niederer, Rachel, Patel, Dipika V., McGhee, Charles N.J.
Publié 2013Texte -
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Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant par Dudakova, Lubica, Skalicka, Pavlina, Ulmanová, Olga, Hlozanek, Martin, Stranecky, Viktor, Malinka, Frantisek, Vincent, Andrea L., Liskova, Petra
Publié 2020Texte -
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Impact of TCF4 Repeat Number on Resolution of Corneal Edema after Descemet’s Stripping Only in Fuchs Dystrophy: A Pilot Study par Spiteri, Natasha, Hirnschall, Nino, van Bysterveldt, Katherine, Hou, Alec Lin, Moloney, Gregory, Ball, Matthew, Vincent, Andrea L.
Publié 2021Texte -
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Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population par Vincent, Andrea L., Niederer, Rachael L., Richards, Amanda, Karolyi, Betina, Patel, Dipika V., McGhee, Charles N.J.
Publié 2009Texte -
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A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer par Wheeldon, Catherine E., de Karolyi, Betina H., Patel, Dipika V., Sherwin, Trevor, McGhee, Charles N.J., Vincent, Andrea L.
Publié 2008Texte -
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Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population par Kousal, Bohdan, Hlavata, Lucia, Vlaskova, Hana, Dvorakova, Lenka, Brichova, Michaela, Dubska, Zora, Langrova, Hana, Vincent, Andrea L., Dudakova, Lubica, Liskova, Petra
Publié 2021Texte -
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Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy par Vincent, Andrea L., Markie, David M., De Karolyi, Betina, Wheeldon, Catherine E., Patel, Dipika V., Grupcheva, Christina N., McGhee, Charles N.J.
Publié 2009Texte -
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Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family par Vincent, Andrea L., Carroll, Joseph, Fishman, Gerald A., Sauer, Alexandra, Sharp, Dianne, Summerfelt, Phyllis, Williams, Vesper, Dubis, Adam M., Kohl, Susanne, Wong, Fulton
Publié 2013Texte -
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Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3 par Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle, Alison J
Publié 2016Texte -
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Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment par Nash, Benjamin M., Watson, Christopher J. G., Hughes, Edward, Hou, Alec L., Loi, To Ha, Bennetts, Bruce, Jelovic, Diana, Polkinghorne, Philip J., Gorbatov, Mark, Grigg, John R., Vincent, Andrea L., Jamieson, Robyn V.
Publié 2021Texte -
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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 par Grudzinska Pechhacker, Monika K., Jacobson, Samuel G., Drack, Arlene V., Scipio, Matteo Di, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L., Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L., Aleman, Tomas S., Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P., Maynes, Jason T., Munier, Francis L., Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise
Publié 2021Texte -
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy par Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne
Publié 2022Texte -
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Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy par Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-Negrete, Francisco J., Newman, Nancy J., Poulton, Joanna, Scoppettuolo, Elisabetta, Subramanian, Prem, Toosy, Ahmed T., Vidal, Mariona, Vincent, Andrea L., Votruba, Marcela, Zarowski, Marcin, Zermansky, Adam, Lob, Felice, Rudolph, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther, Klopstock, Thomas
Publié 2020Texte -
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Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression par Craig, Jamie E., Han, Xikun, Qassim, Ayub, Hassall, Mark, Cooke Bailey, Jessica N., Kinzy, Tyler G., Khawaja, Anthony P., An, Jiyuan, Marshall, Henry, Gharahkhani, Puya, Igo, Robert P., Graham, Stuart L., Healey, Paul R., Ong, Jue-Sheng, Zhou, Tiger, Siggs, Owen, Law, Matthew H., Souzeau, Emmanuelle, Sheldrick, Bronwyn, Hysi, Pirro G., Burdon, Kathryn P., Mills, Richard A., Landers, John, Ruddle, Jonathan B., Agar, Ashish, Galanopoulos, Anna, White, Andrew J. R., Willoughby, Colin E., Andrew, Nicholas, Best, Stephen, Vincent, Andrea L., Goldberg, Ivan, Radford-Smith, Graham, Martin, Nicholas G., Montgomery, Grant W., Vitart, Veronique, Hoehn, Rene, Wojciechowski, Robert, Jonas, Jost B., Aung, Tin, Pasquale, Louis R., Cree, Angela Jane, Sivaprasad, Sobha, Vallabh, Neeru A., Viswanathan, Ananth C., Pasutto, Francesca, Haines, Jonathan L., Klaver, Caroline C. W., van Duijn, Cornelia M., Casson, Robert J., Foster, Paul J., Tee Khaw, Peng, Hammond, Christopher J., Mackey, David A., Mitchell, Paul, Lotery, Andrew J., Wiggs, Janey L., Hewitt, Alex W., MacGregor, Stuart
Publié 2020Texte