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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: gomez carmona s. 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: gomez carmona s. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.
Salas-Labadía C, Gómez-Carmona S, Cruz-Alcívar R, Martínez-Anaya D, Del Castillo-Ruiz V, Durán-McKinster C, Ulloa-Avilés V, Yokoyama-Rebollar E, Ruiz-Herrera A, Navarrete-Meneses P, Lieberman-Hernández E, González-Del Angel A, Cervantes-Barragán D, Villarroel-Cortés C, Reyes-León A, Suárez-Pérez D, Pedraza-Meléndez A, González-Orsuna A, Pérez-Vera P. Salas-Labadía C, et al. Among authors: gomez carmona s. Orphanet J Rare Dis. 2019 Nov 15;14(1):259. doi: 10.1186/s13023-019-1208-0. Orphanet J Rare Dis. 2019. PMID: 31730496 Free PMC article.
Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.
Navarrete-Meneses MP, Ochoa-Mellado I, Gutiérrez-Álvarez R, Martínez-Anaya D, Juárez-Figueroa U, Durán-McKinster C, Lieberman-Hernández E, Yokoyama-Rebollar E, Gómez-Carmona S, Del Castillo-Ruiz V, Pérez-Vera P, Salas-Labadía C. Navarrete-Meneses MP, et al. Among authors: gomez carmona s. Front Genet. 2024 Apr 16;15:1356786. doi: 10.3389/fgene.2024.1356786. eCollection 2024. Front Genet. 2024. PMID: 38711916 Free PMC article.