Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

ανά Lacassagne, Emmanuelle, Dhuez, Aurore, Rigaudière, Florence, Dansault, Anouk, Vêtu, Christelle, Bigot, Karine, Vieira, Véronique, Puech, Bernard, Defoort-Dhellemmes, Sabine, Abitbol, Marc
Έκδοση 2011

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

ανά Cipriani, Valentina, Silva, Raquel S., Arno, Gavin, Pontikos, Nikolas, Kalhoro, Ambreen, Valeina, Sandra, Inashkina, Inna, Audere, Mareta, Rutka, Katrina, Puech, Bernard, Michaelides, Michel, van Heyningen, Veronica, Lace, Baiba, Webster, Andrew R., Moore, Anthony T.
Τόπος έκδοσης Sci Rep (2017)

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

ανά Meunier, Isabelle, Bocquet, Béatrice, Labesse, Gilles, Zeitz, Christina, Defoort-Dhellemmes, Sabine, Lacroux, Annie, Mauget-Faysse, Martine, Drumare, Isabelle, Gamez, Anne-Sophie, Mathieu, Cyril, Marquette, Virginie, Sagot, Lola, Dhaenens, Claire-Marie, Arndt, Carl, Carroll, Patrick, Remy-Jardin, Martine, Cohen, Salomon Yves, Sahel, José-Alain, Puech, Bernard, Audo, Isabelle, Mrejen, Sarah, Hamel, Christian P.
Τόπος έκδοσης Sci Rep (2016)

North Carolina Macular Dystrophy is caused by dysregulation of the retinal transcription factor PRDM13

ανά Small, Kent W., DeLuca, Adam P., Whitmore, S. Scott, Rosenberg, Thomas, Silva-Garcia, Rosemary, Udar, Nitin, Puech, Bernard, Garcia, Charles A., Rice, Thomas A., Fishman, Gerald A., Héon, Elise, Folk, James C., Streb, Luan M., Haas, Christine M., Wiley, Luke A., Scheetz, Todd E., Fingert, John H., Mullins, Robert F., Tucker, Budd A., Stone, Edwin. M.
Τόπος έκδοσης Ophthalmology (2015)

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

ανά Douillard, Aymeric, Picot, Marie-Christine, Delcourt, Cécile, Defoort-Dhellemmes, Sabine, Marzouka, Nour Al-Dain, Lacroux, Annie, Zanlonghi, Xavier, Drumare, Isabelle, Jozefowicz, Elsa, Bocquet, Béatrice, Baudoin, Corinne, Perez-Roustit, Sarah, Arsène, Sophie, Gissot, Valérie, Devin, François, Arndt, Carl, Wolff, Benjamin, Mauget-Faÿsse, Martine, Quaranta, Maddalena, Mura, Thibault, Deplanque, Dominique, Oubraham, Hassiba, Cohen, Salomon Yves, Gastaud, Pierre, Zambrowski, Olivia, Creuzot-Garcher, Catherine, Saïd, Saddek Mohand, Sahel, José-Alain, Souied, Eric, Milazzo, Solange, Garavito, Rocio Blanco, Kalatzis, Vasiliki, Puech, Bernard, Hamel, Christian, Audo, Isabelle, Meunier, Isabelle
Τόπος έκδοσης Sci Rep (2018)

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

ανά Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Τόπος έκδοσης Genet Med (2019)