Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

por Fiesco-Roa, Moisés Ó., García-de Teresa, Benilde, Leal-Anaya, Paula, van ‘t Hek, Renée, Wegman-Ostrosky, Talia, Frías, Sara, Rodríguez, Alfredo
Publicado 2022

Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG

por Reyes, Pedro, García-de Teresa, Benilde, Juárez, Ulises, Pérez-Villatoro, Fernando, Fiesco-Roa, Moisés O., Rodríguez, Alfredo, Molina, Bertha, Villarreal-Molina, María Teresa, Meléndez-Zajgla, Jorge, Carnevale, Alessandra, Torres, Leda, Frias, Sara
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