Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

por Salinas-Marín, Roberta, Murakami, Yoshiko, González-Domínguez, Carlos Alberto, Cruz-Muñoz, Mario Ernesto, Mora-Montes, Héctor Manuel, Morava, Eva, Kinoshita, Taroh, Monroy-Santoyo, Susana, Martínez-Duncker, Iván
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

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