Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes

por Hosseini, S. Mohsen, Herd, Sarah, Vincent, Andrea L., Héon, Elise
Publicado 2008

Abusive head trauma and accidental head injury: a 20-year comparative study of referrals to a hospital child protection team

por Kelly, Patrick, John, Simon, Vincent, Andrea L, Reed, Peter
Publicado 2015

Pseudodominance in two families with KCNV2 related retinopathy

por Kiray, Gulunay, Rapata, Micah, Sharp, Dianne, Vincent, Andrea L.
Publicado 2020

Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1)

por Small, Kent W., Vincent, Andrea L., Knapper, Chelsey L., Shaya, Fadi S.
Publicado 2019

Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant

por Vincent, Andrea L., Jordan, Charlotte, Sheck, Leo, Niederer, Rachel, Patel, Dipika V., McGhee, Charles N.J.
Publicado 2013

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

por Dudakova, Lubica, Skalicka, Pavlina, Ulmanová, Olga, Hlozanek, Martin, Stranecky, Viktor, Malinka, Frantisek, Vincent, Andrea L., Liskova, Petra
Publicado 2020

Impact of TCF4 Repeat Number on Resolution of Corneal Edema after Descemet’s Stripping Only in Fuchs Dystrophy: A Pilot Study

por Spiteri, Natasha, Hirnschall, Nino, van Bysterveldt, Katherine, Hou, Alec Lin, Moloney, Gregory, Ball, Matthew, Vincent, Andrea L.
Publicado 2021

Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population

por Vincent, Andrea L., Niederer, Rachael L., Richards, Amanda, Karolyi, Betina, Patel, Dipika V., McGhee, Charles N.J.
Publicado 2009

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer

por Wheeldon, Catherine E., de Karolyi, Betina H., Patel, Dipika V., Sherwin, Trevor, McGhee, Charles N.J., Vincent, Andrea L.
Publicado 2008

Use of public sector diabetes eye services in New Zealand 2006–2019: Analysis of national routinely collected datasets

por Silwal, Pushkar Raj, Lee, Arier C., Squirrell, David, Zhao, Jinfeng, Harwood, Matire, Vincent, Andrea L., Murphy, Rinki, Ameratunga, Shanthi, Ramke, Jacqueline
Publicado 2023

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

por Kousal, Bohdan, Hlavata, Lucia, Vlaskova, Hana, Dvorakova, Lenka, Brichova, Michaela, Dubska, Zora, Langrova, Hana, Vincent, Andrea L., Dudakova, Lubica, Liskova, Petra
Publicado 2021

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy

por Vincent, Andrea L., Markie, David M., De Karolyi, Betina, Wheeldon, Catherine E., Patel, Dipika V., Grupcheva, Christina N., McGhee, Charles N.J.
Publicado 2009

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

por 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
Publicado 2021

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

por 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
Publicado 2022

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

por 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
Publicado 2020