Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

por da Palma, Mariana Matioli, Vargas, Maurício E, Burr, Amanda, Chen, Rui, Pennesi, Mark E, Weleber, Richard G, Yang, Paul
Publicado 2021

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

por Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, Leo, Shaun M., Vincent, Ajoy, Nasser, Fadi, Cabral De Guimarães, Thales Antônio, Khateb, Samer, Pontikos, Nikolas, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, Arno, Gavin, Mahroo, Omar A., Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Carmen, Ayuso, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Wissinger, Bernd, Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Khan, Arif O., Webster, Andrew R., Zrenner, Eberhart, Héon, Elise, Michaelides, Michel
Publicado 2021

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

por Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, Michaelides, Michel
Publicado 2021