Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Doença de Stargardt"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Fernández-Berdasco, Karina, Galvez-Olortegui, José, Guillén-Lozada, Sussan’s Pamela, González, Noelia García, Castro-Navarro, Joaquín
Publikováno v:
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 03 APR 2023
The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy. Here C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______608::2e8c5872657d0ea19fbd4b0ce2660191
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492023005001202&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492023005001202&lng=en&tlng=en
Autor:
Pedro Molina-Solana, María José Morillo-Sánchez, Cristina Méndez-Vidal, Manuel Ramos-Jiménez, Borja Domínguez-Serrano, Guillermo Antiñolo, Enrique Rodríguez-de-la-Rúa-Franch
Publikováno v:
Arquivos Brasileiros de Oftalmologia, Vol 84, Iss 4, Pp 391-394 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Arquivos Brasileiros de Oftalmologia, Volume: 84, Issue: 4, Pages: 391-394, Published: 14 MAY 2021
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 14 MAY 2021
Digital.CSIC. Repositorio Institucional del CSIC
instname
Arquivos Brasileiros de Oftalmologia, Volume: 84, Issue: 4, Pages: 391-394, Published: 14 MAY 2021
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 14 MAY 2021
[EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e8f3783c6cfb847c34fc616b5b2bd5f7
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492021000400391&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492021000400391&tlng=en
Autor:
Geada, Sara, Santos, Cristina, Vaz-Pereira, Sara, Marta, Ana, Correia, Marta, Sousa, Keissy, Soares, Mário, Carvalho, Ana Luísa, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Coutinho Santos, Luísa, Marques, João Pedro
Publikováno v:
Revista Sociedade Portuguesa de Oftalmologia; Vol. 46 No. 1 (2022); 15-24
Revista Sociedade Portuguesa de Oftalmologia; Vol. 46 N.º 1 (2022); 15-24
Revista Sociedade Portuguesa de Oftalmologia; Vol. 46 N.º 1 (2022); 15-24
Introduction Our purpose was to describe the molecular and multimodal retinal imaging findings in a cohort of Portuguese patients with a clinical diagnosis of Stargardt Disease (STGD1). Methods Multicenter, cross sectional cohort study of consecutive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02076f2be1a06a4c9ff0b85321ef7bd
Autor:
Guillermo Antiñolo, Enrique Rodríguez-de-la-Rúa-Franch, Cristina Méndez-Vidal, Borja Domínguez-Serrano, María José Morillo-Sánchez, Manuel Ramos-Jiménez, P. Molina-Solana
Publikováno v:
Arquivos Brasileiros de Oftalmologia.
[EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaf3e0bfaa8db625a6f9e5f1a10827ed
http://hdl.handle.net/10261/265509
http://hdl.handle.net/10261/265509