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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: abreu gonzalez m. 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: abreu gonzalez m. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.
Vela-Amieva M, Abreu-González M, González-del Angel A, Ibarra-González I, Fernández-Lainez C, Barrientos-Ríos R, Monroy-Santoyo S, Guillén-López S, Alcántara-Ortigoza MA. Vela-Amieva M, et al. Among authors: abreu gonzalez m. Clin Genet. 2015 Jul;88(1):62-7. doi: 10.1111/cge.12444. Epub 2014 Jul 26. Clin Genet. 2015. PMID: 24941924
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C. Garza-Mayén G, et al. Among authors: abreu gonzalez m. Eur J Med Genet. 2021 May;64(5):104199. doi: 10.1016/j.ejmg.2021.104199. Epub 2021 Mar 18. Eur J Med Genet. 2021. PMID: 33746039
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome.
Abreu-González M, García-Delgado C, Cervantes A, Aparicio-Onofre A, Guevara-Yáñez R, Sánchez-Urbina R, Gallegos-Arreola MP, Luna-Angulo A, Estrada FJ, Morán-Barroso VF. Abreu-González M, et al. Case Rep Genet. 2013;2013:895259. doi: 10.1155/2013/895259. Epub 2013 Sep 18. Case Rep Genet. 2013. PMID: 24151567 Free PMC article.
Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5.
Flores Ramírez F, Abreu González M, García Delgado C, Aparicio Onofre A, Guevara Yáñez R, Sánchez Urbina R, Murguía Peniche T, Ramírez-Ortíz MA, Ibarra Ríos D, Ortiz de Luna RI, Cervantes Peredo AB, Morán Barroso VF. Flores Ramírez F, et al. Among authors: abreu gonzalez m. Genet Couns. 2010;21(4):363-73. Genet Couns. 2010. PMID: 21290965