Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery

por Silva-Estrada, Jorge, Cervantes-Barragán, David E., Reyes-de la Cruz, Lorenzo, Meléndez-Ramírez, Gabriela, Meave, Aloha, Alaez-Verson, Carmen
Publicado 2022

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

por Fernández-Hernández, Liliana, Reyna-Fabián, Miriam Erandi, Alcántara-Ortigoza, Miguel Angel, Aláez-Verson, Carmen, Flores-Lagunes, Luis L., Carrillo-Sánchez, Karol, González-del Angel, Ariadna
Publicado 2022

Rapid Identification of Drug Resistance and Phylogeny in M. tuberculosis, Directly from Sputum Samples

por Barbosa-Amezcua, Martín, Cuevas-Córdoba, Betzaida, Fresno, Cristóbal, Haase-Hernández, Joshua I., Carrillo-Sánchez, Karol, Mata-Rocha, Minerva, Muñoz-Torrico, Marcela, Bäcker, Claudia, González-Covarrubias, Vanessa, Alaez-Verson, Carmen, Soberón, Xavier
Publicado 2022

Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

por Kazakova, Ekaterina, Téllez-Martínez, José Alberto, Flores-Lagunes, Leonardo, Sosa-Ortiz, Ana Luisa, Carillo-Sánchez, Karol, Molina-Garay, Carolina, González-Domínguez, Carlos Alberto, Jimenez-Olivares, Marco, Fernandez-Valverde, Francisca, Vargas-Cañas, Edwin Steven, Vázquez-Memije, Martha Elisa, Garcia-Latorre, Ethel Awilda, Martínez-Duncker, Iván, Alaez-Verson, Carmen
Publicado 2023

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

por Staines Boone, Aidé Tamara, Chinn, Ivan K., Alaez-Versón, Carmen, Yamazaki-Nakashimada, Marco A., Carrillo-Sánchez, Karol, García-Cruz, María de la Luz Hortensia, Poli, M. Cecilia, González Serrano, M. Edith, Medina Torres, Edgar A., Muzquiz Zermeño, David, Forbes, Lisa R., Espinosa-Rosales, Francisco J., Espinosa-Padilla, Sara E., Orange, Jordan S., Lugo Reyes, Saul Oswaldo
Publicado 2019

Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America

por Takada, Leonel Tadao, Aláez-Verson, Carmen, Burgute, Bhagyashri D., Nitrini, Ricardo, Sosa, Ana Luisa, Castilhos, Raphael Machado, Chaves, Marcia Fagundes, Longoria, Erika-Mariana, Carrillo-Sánchez, Karol, Brucki, Sonia Maria Dozzi, Flores-Lagunes, Luis Leonardo, Molina, Carolina, Olivares, Marcos Jimenez, Ziegemeier, Ellen, Petranek, Jennifer, Goate, Alison M., Cruchaga, Carlos, Renton, Alan E., Fernández, Maria Victoria, Day, Gregory S., McDade, Eric, Bateman, Randall J., Karch, Celeste M., Llibre-Guerra, Jorge J.
Publicado 2022

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

por González-Domínguez, Carlos Alberto, Fiesco-Roa, Moisés O., Gómez-Carmona, Samuel, Kleinert-Altamirano, Anke Paula Ingrid, He, Miao, Daniel, Earnest James Paul, Raymond, Kimiyo M., Abreu-González, Melania, Manrique-Hernández, Sandra, González-Jaimes, Ana, Salinas-Marín, Roberta, Molina-Garay, Carolina, Carrillo-Sánchez, Karol, Flores-Lagunes, Luis Leonardo, Jiménez-Olivares, Marco, Muñoz-Rivas, Anallely, Cruz-Muñoz, Mario E., Ruíz-García, Matilde, Freeze, Hudson H., Mora-Montes, Héctor M., Alaez-Verson, Carmen, Martínez-Duncker, Iván
Publicado 2021

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

por González-Domínguez, Carlos Alberto, Fiesco-Roa, Moisés O., Gómez-Carmona, Samuel, Kleinert-Altamirano, Anke Paula Ingrid, He, Miao, Daniel, Earnest James Paul, Raymond, Kimiyo M., Abreu-González, Melania, Manrique-Hernández, Sandra, González-Jaimes, Ana, Salinas-Marín, Roberta, Molina-Garay, Carolina, Carrillo-Sánchez, Karol, Flores-Lagunes, Luis Leonardo, Jiménez-Olivares, Marco, Muñoz-Rivas, Anallely, Cruz-Muñoz, Mario E., Ruíz-García, Matilde, Freeze, Hudson H., Mora-Montes, Héctor M., Alaez-Verson, Carmen, Martínez-Duncker, Iván
Publicado 2021

Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications

por Molina Garay, Carolina, Carrillo Sánchez, Karol, Flores Lagunes, Luis Leonardo, Jiménez Olivares, Marco, Muñoz Rivas, Anallely, Villegas Torres, Beatríz Eugenia, Flores Aguilar, Hilario, Núñez Enríquez, Juan Carlos, Jiménez Hernández, Elva, Bekker Méndez, Vilma Carolina, Torres Nava, José Refugio, Flores Lujano, Janet, Martín Trejo, Jorge Alfonso, Mata Rocha, Minerva, Medina Sansón, Aurora, Espinoza Hernández, Laura Eugenia, Peñaloza Gonzalez, José Gabriel, Espinosa Elizondo, Rosa Martha, Flores Villegas, Luz Victoria, Amador Sanchez, Raquel, Pérez Saldívar, María Luisa, Sepúlveda Robles, Omar Alejandro, Rosas Vargas, Haydeé, Jiménez Morales, Silvia, Galindo Delgado, Patricia, Mejía Aranguré, Juan Manuel, Alaez Verson, Carmen
Publicado 2022

Profiling FLT3 Mutations in Mexican Acute Myeloid Leukemia Pediatric Patients: Impact on Overall Survival

por Molina Garay, Carolina, Carrillo Sánchez, Karol, Flores Lagunes, Luis Leonardo, Jiménez Olivares, Marco, Muñoz Rivas, Anallely, Villegas Torres, Beatríz Eugenia, Flores Aguilar, Hilario, Núñez Enríquez, Juan Carlos, Jiménez Hernández, Elva, Bekker Méndez, Vilma Carolina, Torres Nava, José Refugio, Flores Lujano, Janet, Martín Trejo, Jorge Alfonso, Mata Rocha, Minerva, Medina Sansón, Aurora, Espinoza Hernández, Laura Eugenia, Peñaloza Gonzalez, José Gabriel, Espinosa Elizondo, Rosa Martha, Flores Villegas, Luz Victoria, Amador Sanchez, Raquel, Pérez Saldívar, Maria Luisa, Sepúlveda Robles, Omar Alejandro, Rosas Vargas, Haydeé, Rangel López, Angélica, Domínguez López, María Lilia, García Latorre, Ethel Awilda, Reyes Maldonado, Elba, Galindo Delgado, Patricia, Mejía Aranguré, Juan Manuel, Alaez Verson, Carmen
Publicado 2020

Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population

por Mata-Rocha, Minerva, Rangel-López, Angelica, Jimenez-Hernandez, Elva, Nuñez-Enríquez, Juan Carlos, Morales-Castillo, Blanca Angélica, Sánchez-Escobar, Norberto, Sepúlveda-Robles, Omar Alejandro, Bravata-Alcántara, Juan Carlos, Nájera-Cortés, Alan Steve, Pérez-Saldivar, María Luisa, Flores-Lujano, Janet, Duarte-Rodríguez, David Aldebarán, Oviedo de Anda, Norma Angélica, Romero Tlalolini, Maria de los Angeles, Alaez Verson, Carmen, Martín-Trejo, Jorge Alfonso, Muñoz Medina, Jose Esteban, Gonzalez-Bonilla, Cesar Raul, Hernandez Cueto, Maria de los Angeles, Bekker-Méndez, VC., Jiménez-Morales, Silvia, Medina-Sansón, Aurora, Amador-Sánchez, Raquel, Peñaloza-González, José Gabriel, Torres-Nava, José Refugio, Espinosa-Elizondo, Rosa Martha, Cortés-Herrera, Beatriz, Flores-Villegas, Luz Victoria, Merino-Pasaye, Laura Elizabeth, Gutierrez-Rivera, Maria de Lourdes, Velazquez-Aviña, Martha Margarita, Santillan-Juarez, Jessica Denisse, Gurrola-Silva, Alma, Hernández Echáurregui, Gabriela Alicia, Hidalgo-Miranda, Alfredo, Arellano Galindo, José, Rosas-Vargas, Haydeé, Mejía-Aranguré, Juan Manuel
Publicado 2022