Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

por Toulis, Vasileios, Cortés-González, Vianney, de Castro-Miró, Marta, Ferraz Sallum, Juliana, Català-Mora, Jaume, Villanueva-Mendoza, Cristina, Ciccioli, Marcela, Gonzàlez-Duarte, Roser, Valero, Rebeca, Marfany, Gemma
Publicado 2020

Structure versus function: correlation between outer retinal and choroidal thicknesses measured by swept-source OCT with multifocal electroretinography and visual acuity

por Flores-Moreno, Ignacio, Arias-Barquet, Luis, Rubio-Caso, Marcos J., Muñoz-Blanco, Alex, Vidal-Martí, María, Catala-Mora, Jaume, Ruiz-Moreno, José M., Duker, Jay S., Caminal, Josep M.
Publicado 2017

Follow‐up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients

por Cuadrado‐Vilanova, Maria, Burgueño, Victor, Balaguer‐Lluna, Leire, Aschero, Rosario, Castillo‐Ecija, Helena, Liu, Jing, Perez‐Jaume, Sara, Pascual‐Pasto, Guillem, Olaciregui, Nagore G, Gomez‐Gonzalez, Soledad, Correa, Genoveva, Suñol, Mariona, Schaiquevich, Paula, Radvanyi, François, Lavarino, Cinzia, Mora, Jaume, Catala‐Mora, Jaume, Chantada, Guillermo L, Carcaboso, Angel M
Publicado 2022

DNA Methylomes Reveal Biological Networks Involved in Human Eye Development, Functions and Associated Disorders

por Berdasco, María, Gómez, Antonio, Rubio, Marcos J., Català-Mora, Jaume, Zanón-Moreno, Vicente, Lopez, Miguel, Hernández, Cristina, Yoshida, Shigeo, Nakama, Takahito, Ishikawa, Keijiro, Ishibashi, Tatsuro, Boubekeur, Amina M., Louhibi, Lotfi, Pujana, Miguel A, Sayols, Sergi, Setien, Fernando, Corella, Dolores, de Torres, Carmen, Parareda, Andreu, Mora, Jaume, Zhao, Ling, Zhang, Kang, Lleonart, Matilde E., Alonso, Javier, Simó, Rafael, Caminal, Josep M., Esteller, Manel
Publicado 2017

Patients presenting with metastases: stage IV uveal melanoma, an international study

por Garg, Gaurav, Finger, Paul T, Kivelä, Tero T, Simpson, E Rand, Gallie, Brenda L, Saakyan, Svetlana, Amiryan, Anush G, Valskiy, Vladimir, Chin, Kimberly J, Semenova, Ekaterina, Seregard, Stefan, Filì, Maria, Wilson, Matthew, Haik, Barrett, Caminal, Josep Maria, Catala-Mora, Jaume, Gutiérrez, Cristina, Pelayes, David E, Folgar, Anibal Martin, Jager, Martine Johanna, Doğrusöz, Mehmet, Luyten, Gregorius P M, Singh, Arun D, Suzuki, Shigenobu
Publicado 2022

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

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado 2016

Retinoblastoma seeds: impact on American Joint Committee on Cancer clinical staging

por Tomar, Ankit Singh, Finger, Paul T, Gallie, Brenda, Kivelä, Tero, Mallipatna, Ashwin, Zhang, Chengyue, Zhao, Junyang, Wilson, Matthew, Brennan, Rachel, Burges, Michala, Kim, Jonathan, Berry, Jesse L, Jubran, Rima, Khetan, Vikas, Ganeshan, Suganeswari, Yarovoy, Andrey, Yarovaya, Vera, Kotova, Elena, Volodin, Denis, Yousef, Yacoub, Nummi, Kalle, Ushakova, Tatiana L, Yugay, Olga V, Polyakov, Vladimir G, Ramirez-Ortiz, Marco Antonio, Esparza-Aguiar, Elizabeth, Chantada, Guillermo L, Schaiquevich, Paula, Fandiño, Adriana C, Yam, Jason C, Lau, Winnie W, Lam, Carol P, Sharwood, Phillipa, Moorthy, Sonia, Long, Quah Boon, Essuman, Vera Adobea, Renner, Lorna A, Semenova, Ekaterina, Català-Mora, Jaume, Correa Llano, Maria, Carreras, Elisa
Publicado 2023

Metastatic Death Based on Presenting Features and Treatment for Advanced Intraocular Retinoblastoma: A Multicenter Registry-Based Study

por Tomar, Ankit Singh, Finger, Paul T., Gallie, Brenda, Kivelä, Tero T., Mallipatna, Ashwin, Zhang, Chengyue, Zhao, Junyang, Wilson, Matthew W., Brennan, Rachel C., Burges, Michala, Kim, Jonathan, Berry, Jesse L., Jubran, Rima, Khetan, Vikas, Ganesan, Suganeswari, Yarovoy, Andrey, Yarovaya, Vera, Kotova, Elena, Volodin, Denis, Yousef, Yacoub A., Nummi, Kalle, Ushakova, Tatiana L., Yugay, Olga V., Polyakov, Vladimir G., Ramirez-Ortiz, Marco A., Esparza-Aguiar, Elizabeth, Chantada, Guillermo, Schaiquevich, Paula, Fandino, Adriana, Yam, Jason C., Lau, Winnie W., Lam, Carol P., Sharwood, Phillipa, Moorthy, Sonia, Long, Quah Boon, Essuman, Vera Adobea, Renner, Lorna A., Semenova, Ekaterina, Català-Mora, Jaume, Correa-Llano, Genoveva, Carreras, Elisa
Publicado 2022

High-risk Pathologic Features Based on Presenting Findings in Advanced Intraocular Retinoblastoma: A Multicenter, International Data-Sharing American Joint Committee on Cancer Stud...

por Tomar, Ankit Singh, Finger, Paul T., Gallie, Brenda, Kivelä, Tero T., Mallipatna, Ashwin, Zhang, Chengyue, Zhao, Junyang, Wilson, Matthew W., Brennan, Rachel C., Burges, Michala, Kim, Jonathan, Berry, Jesse L., Jubran, Rima, Khetan, Vikas, Ganesan, Suganeswari, Yarovoy, Andrey, Yarovaya, Vera, Kotova, Elena, Volodin, Denis, Yousef, Yacoub A., Nummi, Kalle, Ushakova, Tatiana L., Yugay, Olga V., Polyakov, Vladimir G., Ramirez-Ortiz, Marco A., Esparza-Aguiar, Elizabeth, Chantada, Guillermo, Schaiquevich, Paula, Fandino, Adriana, Yam, Jason C., Lau, Winnie W., Lam, Carol P., Sharwood, Phillipa, Moorthy, Sonia, Long, Quah Boon, Essuman, Vera Adobea, Renner, Lorna A., Semenova, Ekaterina, Català-Mora, Jaume, Correa-Llano, Genoveva, Carreras, Elisa
Publicado 2022

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

por Liu, Jing, Ottaviani, Daniela, Sefta, Meriem, Desbrousses, Céline, Chapeaublanc, Elodie, Aschero, Rosario, Sirab, Nanor, Lubieniecki, Fabiana, Lamas, Gabriela, Tonon, Laurie, Dehainault, Catherine, Hua, Clément, Fréneaux, Paul, Reichman, Sacha, Karboul, Narjesse, Biton, Anne, Mirabal-Ortega, Liliana, Larcher, Magalie, Brulard, Céline, Arrufat, Sandrine, Nicolas, André, Elarouci, Nabila, Popova, Tatiana, Némati, Fariba, Decaudin, Didier, Gentien, David, Baulande, Sylvain, Mariani, Odette, Dufour, Florent, Guibert, Sylvain, Vallot, Céline, Rouic, Livia Lumbroso-Le, Matet, Alexandre, Desjardins, Laurence, Pascual-Pasto, Guillem, Suñol, Mariona, Catala-Mora, Jaume, Llano, Genoveva Correa, Couturier, Jérôme, Barillot, Emmanuel, Schaiquevich, Paula, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Houdayer, Claude, Brisse, Hervé, Bernard-Pierrot, Isabelle, Letouzé, Eric, Viari, Alain, Saule, Simon, Sastre-Garau, Xavier, Doz, François, Carcaboso, Angel M., Cassoux, Nathalie, Pouponnot, Celio, Goureau, Olivier, Chantada, Guillermo, de Reyniès, Aurélien, Aerts, Isabelle, Radvanyi, François
Publicado 2021

Global Retinoblastoma Presentation and Analysis by National Income Level

por Fabian, Ido Didi, Abdallah, Elhassan, Abdullahi, Shehu U., Abdulqader, Rula A., Adamou Boubacar, Sahadatou, Ademola-Popoola, Dupe S., Adio, Adedayo, Afshar, Armin R., Aggarwal, Priyanka, Aghaji, Ada E., Ahmad, Alia, Akib, Marliyanti N. R., Al Harby, Lamis, Al Ani, Mouroge H., Alakbarova, Aygun, Portabella, Silvia Alarcón, Al-Badri, Safaa A. F., Alcasabas, Ana Patricia A., Al-Dahmash, Saad A., Alejos, Amanda, Alemany-Rubio, Ernesto, Alfa Bio, Amadou I., Alfonso Carreras, Yvania, Al-Haddad, Christiane, Al-Hussaini, Hamoud H. Y., Ali, Amany M., Alia, Donjeta B., Al-Jadiry, Mazin F., Al-Jumaly, Usama, Alkatan, Hind M., All-Eriksson, Charlotta, Al-Mafrachi, Ali A. R. M., Almeida, Argentino A., Alsawidi, Khalifa M., Al-Shaheen, Athar A. S. M., Al-Shammary, Entissar H., Amiruddin, Primawita O., Antonino, Romanzo, Astbury, Nicholas J., Atalay, Hatice T., Atchaneeyasakul, La-ongsri, Atsiaya, Rose, Attaseth, Taweevat, Aung, Than H., Ayala, Silvia, Baizakova, Baglan, Balaguer, Julia, Balayeva, Ruhengiz, Balwierz, Walentyna, Barranco, Honorio, Bascaran, Covadonga, Beck Popovic, Maja, Benavides, Raquel, Benmiloud, Sarra, Bennani Guebessi, Nissrine, Berete, Rokia C., Berry, Jesse L., Bhaduri, Anirban, Bhat, Sunil, Biddulph, Shelley J., Biewald, Eva M., Bobrova, Nadia, Boehme, Marianna, Boldt, H.C., Bonanomi, Maria Teresa B. C., Bornfeld, Norbert, Bouda, Gabrielle C., Bouguila, Hédi, Boumedane, Amaria, Brennan, Rachel C., Brichard, Bénédicte G., Buaboonnam, Jassada, Calderón-Sotelo, Patricia, Calle Jara, Doris A., Camuglia, Jayne E., Cano, Miriam R., Capra, Michael, Cassoux, Nathalie, Castela, Guilherme, Castillo, Luis, Català-Mora, Jaume, Chantada, Guillermo L., Chaudhry, Shabana, Chaugule, Sonal S., Chauhan, Argudit, Chawla, Bhavna, Chernodrinska, Violeta S., Chiwanga, Faraja S., Chuluunbat, Tsengelmaa, Cieslik, Krzysztof, Cockcroft, Ruellyn L., Comsa, Codruta, Correa, Zelia M., Correa Llano, Maria G., Corson, Timothy W., Cowan-Lyn, Kristin E., Csóka, Monika, Cui, Xuehao, Da Gama, Isac V., Dangboon, Wantanee, Das, Anirban, Das, Sima, Davanzo, Jacquelyn M., Davidson, Alan, De Potter, Patrick, Delgado, Karina Q., Demirci, Hakan, Desjardins, Laurence, Diaz Coronado, Rosdali Y., Dimaras, Helen, Dodgshun, Andrew J., Donaldson, Craig, Donato Macedo, Carla R., Dragomir, Monica D., Du, Yi, Du Bruyn, Magritha, Edison, Kemala S., Eka Sutyawan, I. Wayan, El Kettani, Asmaa, Elbahi, Amal M., Elder, James E., Elgalaly, Dina, Elhaddad, Alaa M., Elhassan, Moawia M. Ali, Elzembely, Mahmoud M., Essuman, Vera A., Evina, Ted Grimbert A., Fadoo, Zehra, Fandiño, Adriana C., Faranoush, Mohammad, Fasina, Oluyemi, Fernández, Delia D. P. G., Fernández-Teijeiro, Ana, Foster, Allen, Frenkel, Shahar, Fu, Ligia D., Fuentes-Alabi, Soad L., Gallie, Brenda L., Gandiwa, Moira, Garcia, Juan L., García Aldana, David, Gassant, Pascale Y., Geel, Jennifer A., Ghassemi, Fariba, Girón, Ana V., Gizachew, Zelalem, Goenz, Marco A., Gold, Aaron S., Goldberg-Lavid, Maya, Gole, Glen A., Gomel, Nir, Gonzalez, Efren, Gonzalez Perez, Graciela, González-Rodríguez, Liudmira, Garcia Pacheco, Henry N., Graells, Jaime, Green, Liz, Gregersen, Pernille A., Grigorovski, Nathalia D. A. K., Guedenon, Koffi M., Gunasekera, D. Sanjeeva, Gündüz, Ahmet K., Gupta, Himika, Gupta, Sanjiv, Hadjistilianou, Theodora, Hamel, Patrick, Hamid, Syed A., Hamzah, Norhafizah, Hansen, Eric D., Harbour, J. William, Hartnett, M. Elizabeth, Hasanreisoglu, Murat, Hassan, Sadiq, Hassan, Shadab, Hederova, Stanislava, Hernandez, Jose, Hernandez, Lorelay Marie Carcamo, Hessissen, Laila, Hordofa, Diriba F., Huang, Laura C., Hubbard, G. B., Hummlen, Marlies, Husakova, Kristina, Hussein Al-Janabi, Allawi N., Ida, Russo, Ilic, Vesna R., Jairaj, Vivekaraj, Jeeva, Irfan, Jenkinson, Helen, Ji, Xunda, Jo, Dong Hyun, Johnson, Kenneth P., Johnson, William J., Jones, Michael M., Kabesha, Theophile B. Amani, Kabore, Rolande L., Kaliki, Swathi, Kalinaki, Abubakar, Kantar, Mehmet, Kao, Ling-Yuh, Kardava, Tamar, Kebudi, Rejin, Kepak, Tomas, Keren-Froim, Naama, Khan, Zohora J., Khaqan, Hussain A., Khauv, Phara, Kheir, Wajiha J., Khetan, Vikas, Khodabande, Alireza, Khotenashvili, Zaza, Kim, Jonathan W., Kim, Jeong Hun, Kiratli, Hayyam, Kivelä, Tero T., Klett, Artur, Komba Palet, Jess Elio Kosh, Krivaitiene, Dalia, Kruger, Mariana, Kulvichit, Kittisak, Kuntorini, Mayasari W., Kyara, Alice, Lachmann, Eva S., Lam, Carol P. S., Lam, Geoffrey C., Larson, Scott A., Latinović, Slobodanka, Laurenti, Kelly D., Le, Bao Han A., Lecuona, Karin, Leverant, Amy A., Li, Cairui, Limbu, Ben, Long, Quah Boon, López, Juan P., Lukamba, Robert M., Lumbroso, Livia, Luna-Fineman, Sandra, Lutfi, Delfitri, Lysytsia, Lesia, Magrath, George N., Mahajan, Amita, Majeed, Abdul Rahim, Maka, Erika, Makan, Mayuri, Makimbetov, Emil K., Manda, Chatonda, Martín Begue, Nieves, Mason, Lauren, Mason, John O., Matende, Ibrahim O., Materin, Miguel, Mattosinho, Clarissa C. D. S., Matua, Marchelo, Mayet, Ismail, Mbumba, Freddy B., McKenzie, John D., Medina-Sanson, Aurora, Mehrvar, Azim, Mengesha, Aemero A., Menon, Vikas, Mercado, Gary John V. D., Mets, Marilyn B., Midena, Edoardo, Mishra, Divyansh K. C., Mndeme, Furahini G., Mohamedani, Ahmed A., Mohammad, Mona T., Moll, Annette C., Montero, Margarita M., Morales, Rosa A., Moreira, Claude, Mruthyunjaya, Prithvi, Msina, Mchikirwa S., Msukwa, Gerald, Mudaliar, Sangeeta S., Muma, Kangwa I., Munier, Francis L., Murgoi, Gabriela, Murray, Timothy G., Musa, Kareem O., Mushtaq, Asma, Mustak, Hamzah, Muyen, Okwen M., Naidu, Gita, Nair, Akshay Gopinathan, Naumenko, Larisa, Ndoye Roth, Paule Aïda, Nency, Yetty M., Neroev, Vladimir, Ngo, Hang, Nieves, Rosa M., Nikitovic, Marina, Nkanga, Elizabeth D., Nkumbe, Henry, Nuruddin, Murtuza, Nyaywa, Mutale, Obono-Obiang, Ghislaine, Oguego, Ngozi C., Olechowski, Andrzej, Oliver, Scott C. N., Osei-Bonsu, Peter, Ossandon, Diego, Paez-Escamilla, Manuel A., Pagarra, Halimah, Painter, Sally L, Paintsil, Vivian, Paiva, Luisa, Pal, Bikramjit P., Palanivelu, Mahesh Shanmugam, Papyan, Ruzanna, Parrozzani, Raffaele, Parulekar, Manoj, Pascual Morales, Claudia R., Paton, Katherine E., Pawinska-Wasikowska, Katarzyna, Pe'er, Jacob, Peña, Armando, Perić, Sanja, Pham, Chau T. M., Philbert, Remezo, Plager, David A., Pochop, Pavel, Polania, Rodrigo A., Polyakov, Vladimir G., Pompe, Manca T., Pons, Jonathan J., Prat, Daphna, Prom, Vireak, Purwanto, Ignatius, Qadir, Ali O., Qayyum, Seema, Qian, Jiang, Rahman, Ardizal, Rahman, Salman, Rahmat, Jamalia, Rajkarnikar, Purnima, Ramanjulu, Rajesh, Ramasubramanian, Aparna, Ramirez-Ortiz, Marco A., Raobela, Léa, Rashid, Riffat, Reddy, M. Ashwin, Reich, Ehud, Renner, Lorna A., Reynders, David, Ribadu, Dahiru, Riheia, Mussagy M., Ritter-Sovinz, Petra, Rojanaporn, Duangnate, Romero, Livia, Roy, Soma R., Saab, Raya H., Saakyan, Svetlana, Sabhan, Ahmed H, Sagoo, Mandeep S., Said, Azza M. A., Saiju, Rohit, Salas, Beatriz, San Román Pacheco, Sonsoles, Sánchez, Gissela L., Sayalith, Phayvanh, Scanlan, Trish A., Schefler, Amy C., Schoeman, Judy, Sedaghat, Ahad, Seregard, Stefan, Seth, Rachna, Shah, Ankoor S., Shakoor, Shawkat A., Sharma, Manoj K., Sherief, Sadik T., Shetye, Nandan G., Shields, Carol L., Siddiqui, Sorath Noorani, Sidi Cheikh, Sidi, Silva, Sónia, Singh, Arun D., Singh, Niharika, Singh, Usha, Singha, Penny, Sitorus, Rita S., Skalet, Alison H., Soebagjo, Hendrian D., Sorochynska, Tetyana, Ssali, Grace, Stacey, Andrew W., Staffieri, Sandra E., Stahl, Erin D., Stathopoulos, Christina, Stirn Kranjc, Branka, Stones, David K., Strahlendorf, Caron, Suarez, Maria Estela Coleoni, Sultana, Sadia, Sun, Xiantao, Sundy, Meryl, Superstein, Rosanne, Supriyadi, Eddy, Surukrattanaskul, Supawan, Suzuki, Shigenobu, Svojgr, Karel, Sylla, Fatoumata, Tamamyan, Gevorg, Tan, Deborah, Tandili, Alketa, Tarrillo Leiva, Fanny F., Tashvighi, Maryam, Tateshi, Bekim, Tehuteru, Edi S., Teixeira, Luiz F., Teh, Kok Hoi, Theophile, Tuyisabe, Toledano, Helen, Trang, Doan L., Traoré, Fousseyni, Trichaiyaporn, Sumalin, Tuncer, Samuray, Tyau-Tyau, Harba, Umar, Ali B., Unal, Emel, Uner, Ogul E., Urbak, Steen F., Ushakova, Tatiana L., Usmanov, Rustam H., Valeina, Sandra, van Hoefen Wijsard, Milo, Varadisai, Adisai, Vasquez, Liliana, Vaughan, Leon O., Veleva-Krasteva, Nevyana V., Verma, Nishant, Victor, Andi A., Viksnins, Maris, Villacís Chafla, Edwin G., Vishnevskia-Dai, Vicktoria, Vora, Tushar, Wachtel, Antonio E., Wackernagel, Werner, Waddell, Keith, Wade, Patricia D., Wali, Amina H., Wang, Yi-Zhuo, Weiss, Avery, Wilson, Matthew W., Wime, Amelia D. C., Wiwatwongwana, Atchareeya, Wiwatwongwana, Damrong, Wolley Dod, Charlotte, Wongwai, Phanthipha, Xiang, Daoman, Xiao, Yishuang, Yam, Jason C., Yang, Huasheng, Yanga, Jenny M., Yaqub, Muhammad A, Yarovaya, Vera A., Yarovoy, Andrey A., Ye, Huijing, Yousef, Yacoub A., Yuliawati, Putu, Zapata López, Arturo M., Zein, Ekhtelbenina, Zhang, Chengyue, Zhang, Yi, Zhao, Junyang, Zheng, Xiaoyu, Zhilyaeva, Katsiaryna, Zia, Nida, Ziko, Othman A. O., Zondervan, Marcia, Bowman, Richard
Publicado 2020