Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Autor: Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy patte

Externí odkaz: https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2

Local Resection in Choroidal Melanoma: A Review

Autor: Josep Maria Caminal, Daniel Lorenzo, Cristina Gutierrez, Andrea Slocker, Josep Maria Piulats, Estefania Cobos, Pere Garcia-Bru, Rahul Morwani, Juan Francisco Santamaria, Luis Arias

Publikováno v: Journal of clinical medicine. 11(23)

Surgical resection is widely used to treat small tumours located in the iris and the ciliary body, due to the accessibility of these sites. By contrast, surgical removal of choroidal tumours is substantially more challenging, which is why this proced

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d986b5df1ca1b094e31f8deead07557
https://pubmed.ncbi.nlm.nih.gov/36498730

Macular Neovascularization Type Influence on Anti-VEGF Intravitreal Therapy Outcomes in Age-Related Macular Degeneration

Autor: Zarranz-Ventura, Javier, Parrado-Carrillo, Alba, Figueras-Roca, Marc, Moll-Udina, Aina, Izquierdo-Serra, Jordi, Serrano, Alba, Grau, Jose, Bernal-Morales, Carolina, Alforja, Socorro, Casaroli-Marano, Ricardo P., Sararols-Ramsay, Laura, Londoño, Gabriel, Olivera, Maximiliano, Bañon, Karim, Rethati, Cynthia, Calvo, Pilar, Sánchez, Jorge, Puzo, Martín, Ruiz-Moreno, Oscar, Garay-Aramburu, Gonzaga, Larrauri-Arana, Arantza, Gómez-Moreno, Angela, Rodríguez-Feijoo, David, Diaz-de-Durana-Santa-Coloma, Enrique, Aldazabal-Echeveste, Maialen, del-Barrio-Lopez-de-Ipiña, Zuriñe, Herrero-Díaz, Irene, García-Arumí, José, Brosa, Helena, Sánchez-Vela, Laura, Zapata, Miguel Angel, Arruabarrena, Carolina, Montejano-Milner, Rafael, de Aragón, Fernando, Abraldes López-Veiga, Maximino José, Gómez Conde, María Lidia, Rodríguez-Cid, María José, Fernández Rodríguez, María Isabel, Almuiña Varela, Pablo, Fernández-Hortelano, Ana, Zarallo-Gallardo, Jesús, Cobo-Soriano, Rosario, Lozano-Escobar, Inmaculada, Moreno-Martín, Paula, Ruiz-Moreno, Jose M., Vega-González, Rocío, García Zamora, María, Flores-Moreno, Ignacio, Valldeperas, Xavier, Broc-Iturralde, Laura, Mira, Ferran Vilaplana, Sánchez, Sandra Gómez, Figueroa, Pamela Campos, Escobar-Barranco, Jose Juan, Fernandez-Bonet, Manel, Pina-Marín, Begoña, Martínez, Eva Salinas, González Guijarro, Jacobo, Acebes García, Muxima, Sanchís, Sonia Aparicio, Fernández, Jonathan Cacelliere, Belmonte Grau, Marta, Ascaso Puyuelo, Francisco Javier, Honrubia Grijalbo, Ana, Boned Murillo, Ana, Díaz Barreda, María Dolores, Rivasés, Guillermo Pérez, El Bakkali, Ismael Bakkali, Gallego-Pinazo, Roberto, Cholbi, Marta, Dolz-Marco, Rosa, Figueroa, Marta S., Ciancas, Esther, Gonzalez-López, Julio José, Haskour, Cesar Azrak, Sánchez, Alvaro Piñero, Muñoz Sanz, Nélida, Carreño, Ester, Ventura, Nestor, Carnota-Méndez, Pablo, Méndez-Vázquez, Carlos, Torres-Borrego, Carlos, Velázquez-Villoria, Daniel, García-Layana, Alfredo, Saenz de Viteri, Manuel, Alonso, Elena, Castillón Torre, Luis J., Muñoz, Pablo Catalán, Sempere, María Eugenia Tena, Álvarez Gil, María de Fátima, Piñas García, Purificación, Mantrana Bermejo, María Eugenia, de los Mozos, Francisco Javier Lavid, Asencio Duran, Mónica, Arias-Barquet, Lluis, Cobos Martín, Estefanía, Parra, Daniel Lorenzo, Rodríguez-Núñez, Marta, Gesto, Ana Campo, Pareja Esteban, Jesús, Ruiz del Tiempo, María del Pilar, Rodríguez-Maqueda, Mariano, Espiñeira Periñan, María Angeles, Sotomayor Toribio, Magdalena, Martin-Pinardel, Ruben, Sanchez-Monroy, Jorge, Fernandez-Hortelano, Ana, Abraldes, Maximino, Lavid de los Mozos, Francisco Javier, Ruiz-Moreno, Jose Maria, Gonzalez-Guijarro, Jacobo, Dotti-Boada, Marina, Barthelmes, Daniel, Gillies, Mark C.

Publikováno v: In Ophthalmology Retina April 2024 8(4):350-359

Local Resection in Choroidal Melanoma: A Review.

Autor: Caminal, Josep Maria¹ (AUTHOR) jmcaminal@bellvitgehospital.cat, Lorenzo, Daniel¹ (AUTHOR), Gutierrez, Cristina² (AUTHOR), Slocker, Andrea² (AUTHOR), Piulats, Josep Maria³ (AUTHOR), Cobos, Estefania¹ (AUTHOR), Garcia-Bru, Pere¹ (AUTHOR), Morwani, Rahul¹ (AUTHOR), Santamaria, Juan Francisco¹ (AUTHOR), Arias, Luis¹ (AUTHOR)

Publikováno v: Journal of Clinical Medicine. Dec2022, Vol. 11 Issue 23, p7156. 30p.

Survival in small choroidal melanocytic lesions with risk factors managed by initial observation until detection of tumour growth.

Autor: Vigués‐Jorba, Laura¹ (AUTHOR), Morwani, Rahul¹ (AUTHOR), Lorenzo, Daniel¹ (AUTHOR) dlorenzo@bellvitgehospital.cat, Baradad‐Jurjo, Maria C.¹ (AUTHOR), Arias, Luis¹ (AUTHOR), Piulats, Josep M.² (AUTHOR), Gutiérrez, Cristina³ (AUTHOR), Cobos, Estefania¹ (AUTHOR), Garcia‐Bru, Pere¹ (AUTHOR), Caminal, Josep M.¹ (AUTHOR)

Publikováno v: Clinical & Experimental Ophthalmology. Apr2021, Vol. 49 Issue 3, p251-259. 9p.