Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

por Ebermann, Inga, Lopez, Irma, Bitner-Glindzicz, Maria, Brown, Carolyn, Karel Koenekoop, Robert, Jörn Bolz, Hanno
Publicado 2007

El tiempo de atención y su impacto en la evolución del cáncer laríngeo

por Castillo-López, Irma Yolanda, Govea-Camacho, Luis Humberto, Gutiérrez-Gallo, Yasmín Graciela, Palacios-López, Julio César
Publicado 2022

Olfactory Dysfunction in a Mexican Population Outside of COVID-19 Pandemic: Prevalence and Associated Factors (the OLFAMEX Study)

por Castillo-López, Irma Yolanda, Govea-Camacho, Luis Humberto, Rodríguez-Torres, Iván Alejandro, Recio-Macías, Denisse Alejandra, Alobid, Isam, Mullol, Joaquim
Publicado 2020

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

por Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K.
Publicado 2017

SARS-CoV-2 Direct Detection Without RNA Isolation With Loop-Mediated Isothermal Amplification (LAMP) and CRISPR-Cas12

por Garcia-Venzor, Alfredo, Rueda-Zarazua, Bertha, Marquez-Garcia, Eduardo, Maldonado, Vilma, Moncada-Morales, Angelica, Olivera, Hiram, Lopez, Irma, Zuñiga, Joaquin, Melendez-Zajgla, Jorge
Publicado 2021

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

por Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui
Publicado 2016

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

por Yzer, Suzanne, den Hollander, Anneke I., Lopez, Irma, Pott, Jan-Willem R., de Faber, Jan Tjeerd H.N., Cremers, Frans P.M., Koenekoop, Robert K., van den Born, L. Ingeborgh
Publicado 2012

Occurrence of zoonotic gastrointestinal parasites of rodents and the risk of human infection in different biomes of Brazil

por Lima, Victor Fernando Santana, Ramos, Rafael Antonio Nascimento, Giannelli, Alessio, Andrade, Wagner Wesley Araújo, López, Irma Yaneth Torres, Ramos, Ingrid Carla do Nascimento, Rinaldi, Laura, Cringoli, Giuseppe, Alves, Leucio Câmara
Publicado 2021

Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

por Zaneveld, Jacques, Siddiqui, Sorath, Li, Huajin, Wang, Xia, Wang, Hui, Wang, Keqing, Li, Hui, Ren, Huanan, Lopez, Irma, Dorfman, Allison, Khan, Ayesha, Wang, Feng, Salvo, Jason, Gelowani, Violet, Li, Yumei, Sui, Ruifang, Koenekoop, Robert, Chen, Rui
Publicado 2014

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

por Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Publicado 2015

Hospital Triage System for Adult Patients Using an Influenza-Like Illness Scoring System during the 2009 Pandemic—Mexico

por Rodriguez-Noriega, Eduardo, Gonzalez-Diaz, Esteban, Morfin-Otero, Rayo, Gomez-Abundis, Gerardo F., Briseño-Ramirez, Jaime, Perez-Gomez, Hector Raul, Lopez-Gatell, Hugo, Alpuche-Aranda, Celia M., Ramírez, Ernesto, López, Irma, Iguala, Miguel, Chapela, Ietza Bojórquez, Zavala, Ethel Palacios, Hernández, Mauricio, Stuart, Tammy L., Villarino, Margarita Elsa, Widdowson, Marc-Alain, Waterman, Steve, Uyeki, Timothy, Azziz-Baumgartner, Eduardo
Publicado 2010

A (H1N1) pdm09 HA D222 variants associated with severity and mortality in patients during a second wave in Mexico

por Vazquez-Perez, Joel A, Isa, Pavel, Kobasa, Darwyn, Ormsby, Christopher E, Ramírez-Gonzalez, Jose E, Romero-Rodríguez, Damaris P, Ranadheera, Charlene, Li, Yan, Bastien, Nathalie, Embury-Hyatt, Carissa, González-Duran, Elizabeth, Barrera-Badillo, Gisela, Ablanedo-Terrazas, Yuria, Sevilla-Reyes, Edgar E, Escalera-Zamudio, Marina, Cobián-Güemes, Ana G, Lopez, Irma, Ortiz-Alcántara, Joanna, Alpuche-Aranda, Celia, Perez-Padilla, Jose R, Reyes-Terán, Gustavo
Publicado 2013

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

por Louie, Carrie M, Caridi, Gianluca, Lopes, Vanda S, Brancati, Francesco, Kispert, Andreas, Lancaster, Madeline A, Schlossman, Andrew M, Otto, Edgar A, Leitges, Michael, Groene, Hermann-Josef, Lopez, Irma, Gudiseva, Harini V, O’Toole, John F, Vallespin, Elena, Ayyagari, Radha, Ayuso, Carmen, Cremers, Frans P, den Hollander, Anneke I, Koenekoop, Robert K, Dallapiccola, Bruno, Ghiggeri, Gian Marco, Hildebrandt, Friedhelm, Valente, Enza Maria, Williams, David S, Gleeson, Joseph G
Publicado 2010

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

por Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2013

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

por Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Publicado 2009

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

por Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm
Publicado 2010

Universidad Veracruzana Poza Rica y Tuxpan. Una iconografía

por Ladrón de Guevara, Sara, Alemán Velasco, Miguel, Alanís Méndez, José Luis, Martell León, Jesús Alberto, Del Toro Ponce, Guadalupe, González Escudero, Sonia Magdalena, Zaleta, Leonardo, Del Angel Salazar, Érika Mayte, García Rocha, Araceli, Cruz Morales, Martha Hilda, López Romero, Ciro Enrique, Espinosa Hernández, América, Cruz Treviño, Miguel Ángel, Hernández Mar, Sandra Luz, Mercado Mojica, Alin Jannet, Pacheco Arenas, Noelia, Arciga Solorio, Irene, Mastachi Pérez, Marcela, Guzmán Valdez, Juana Elena, Villalobos López, Marilá, Moreno Boa, Ángel, Partido Calva, Olga Isabel, Christfield Grayeb, Idelfonso, García Xochihua, Rosa Ilda, Herrera Villa, Jacqueline, Thompson Juárez, Dora Alicia, Álvarez Velázquez, Edalid, Cruz Luis, Esteban, Hidalgo Barrios, Blanca Vianey, Jonguitud Morales, Norma Elisa, Juárez González, Fidel Samuel, Ávila Pardo, Gerardo, Montejo Sánchez, Luis Alberto, Cruz Orduña, María Ines, Juárez Morales, Gabriel, Martínez García, Hermilo, Ramos González, Luz Marí­a, Solís Maldonado, Carolina, Martínez Cruz, Calixto, Torres Hoyos, Diego Arturo, Sánchez Amador, José Luis, Córdova Ceballos, Alejandro, Martínez Sánchez, Trinidad, Ramírez González, Luis David, Pérez Téllez, Juan, Alarcón Pulido, Sara Aída, Basáñez Muñoz, Agustín De Jesús, Dominguez Barradas, Consuelo, Martínez Sánchez, César Enrique, Olmedo Pérez, Gerardo, Cabrera Núñez, Amalia, Daniel Rentería, Ileana Del Carmen, López Ortega, Bolívar Edgardo, Serrano Solís, Arturo, Raya Cruz, Blanca Esther, Chamorro Florescano, Iveth, Madrigal Barragán, Rebeca, Osornio Galeana, Juana Iraís, Aguilar Cervantes, Cynthia, Rivemar Sánchez, Sonia, Arriaga Parada, Alberto, Nochebuena Hernández, Sofía, De la Torre Domínguez, Alejandro, Vera López, Irma, De la Huerta Valdés, Raúl, Manjarrez Bretón, Olga, Bautista Vidal, Benito, Del Campo Chenge, César, Rivas, José Luis
Publicado 2019