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ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: fiesco roa mo. Front Genet. 2021 Sep 9;12:744884. doi: 10.3389/fgene.2021.744884. eCollection 2021. Front Genet. 2021. PMID: 34567092 Free PMC article.
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: fiesco roa mo. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Leal-Anaya P, Kimball TN, Yanez-Felix AL, Fiesco-Roa MÓ, García-de Teresa B, Monsiváis A, Juárez-Velázquez R, Lieberman E, Villarroel C, Yokoyama E, Fernández-Hernández L, Rivera-Osorio A, Sosa D, Ortiz Sandoval MM, López-Santiago N, Frías S, Del Castillo V, Rodríguez A. Leal-Anaya P, et al. Among authors: fiesco roa mo. Front Genet. 2024 Jan 24;14:1293929. doi: 10.3389/fgene.2023.1293929. eCollection 2023. Front Genet. 2024. PMID: 38327701 Free PMC article.
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Adams AD, et al. Among authors: fiesco roa mo. Genet Med. 2023 Sep;25(9):100358. doi: 10.1016/j.gim.2022.12.005. Epub 2023 Jul 20. Genet Med. 2023. PMID: 37470789
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Fiesco-Roa MO, Fernández-Lainez C. Vela-Amieva M, et al. Among authors: fiesco roa mo. Front Genet. 2022 Oct 12;13:993612. doi: 10.3389/fgene.2022.993612. eCollection 2022. Front Genet. 2022. PMID: 36313470 Free PMC article.