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Page 1
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. Front Genet. 2021 Sep 9;12:744884. doi: 10.3389/fgene.2021.744884. eCollection 2021. Front Genet. 2021. PMID: 34567092 Free PMC article.
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M. Fernández-Lainez C, et al. Clin Chim Acta. 2018 Aug;483:33-38. doi: 10.1016/j.cca.2018.04.020. Epub 2018 Apr 16. Clin Chim Acta. 2018. PMID: 29673582
Clinical and genetic description of patients with prenatally identified cardiac tumors.
Mariscal-Mendizábal LF, Sevilla-Montoya R, Martínez-García AJ, Alaez-Verson C, Monroy-Muñoz IE, Pérez-Durán J, Cerón-Albarrán JA, Carrillo-Sánchez K, Molina-Garay C, Flores-Lagunes LL, Jimenez-Olivares M, Aguinaga-Ríos M. Mariscal-Mendizábal LF, et al. Prenat Diagn. 2019 Oct;39(11):998-1004. doi: 10.1002/pd.5521. Epub 2019 Jul 23. Prenat Diagn. 2019. PMID: 31291687
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.
González-Domínguez CA, Raya-Trigueros A, Manrique-Hernández S, González Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Dehesa-Caballero C, Alaez-Versón C, Martínez-Duncker I. González-Domínguez CA, et al. Mol Genet Metab Rep. 2020 Aug 18;25:100637. doi: 10.1016/j.ymgmr.2020.100637. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 32874916 Free PMC article.
Profiling FLT3 Mutations in Mexican Acute Myeloid Leukemia Pediatric Patients: Impact on Overall Survival.
Molina Garay C, Carrillo Sánchez K, Flores Lagunes LL, Jiménez Olivares M, Muñoz Rivas A, Villegas Torres BE, Flores Aguilar H, Núñez Enríquez JC, Jiménez Hernández E, Bekker Méndez VC, Torres Nava JR, Flores Lujano J, Martín Trejo JA, Mata Rocha M, Medina Sansón A, Espinoza Hernández LE, Peñaloza Gonzalez JG, Espinosa Elizondo RM, Flores Villegas LV, Amador Sanchez R, Pérez Saldívar ML, Sepúlveda Robles OA, Rosas Vargas H, Rangel López A, Domínguez López ML, García Latorre EA, Reyes Maldonado E, Galindo Delgado P, Mejía Aranguré JM, Alaez Verson C. Molina Garay C, et al. Front Pediatr. 2020 Sep 16;8:586. doi: 10.3389/fped.2020.00586. eCollection 2020. Front Pediatr. 2020. PMID: 33042924 Free PMC article.
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ, Li Y, Allegri RF, Mendez PC, Surace EI, Llibre-Rodriguez JJ, Sosa AL, Aláez-Verson C, Longoria EM, Tellez A, Carrillo-Sánchez K, Flores-Lagunes LL, Sánchez V, Takada LT, Nitrini R, Ferreira-Frota NA, Benevides-Lima J, Lopera F, Ramírez L, Jiménez-Velázquez I, Schenk C, Acosta D, Behrens MI, Doering M, Ziegemeier E, Morris JC, McDade E, Bateman RJ. Llibre-Guerra JJ, et al. Alzheimers Dement. 2021 Apr;17(4):653-664. doi: 10.1002/alz.12227. Epub 2020 Nov 23. Alzheimers Dement. 2021. PMID: 33226734 Free PMC article.
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Aug;41(6):1291-1302. doi: 10.1007/s10875-021-01052-0. Epub 2021 May 5. J Clin Immunol. 2021. PMID: 33954879 Free PMC article.
Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Oct;41(7):1708. doi: 10.1007/s10875-021-01075-7. J Clin Immunol. 2021. PMID: 34136975 No abstract available.
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA, Villarroel CE, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Mora-Montes HM, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Mol Genet Metab Rep. 2021 Jul 2;28:100781. doi: 10.1016/j.ymgmr.2021.100781. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34277356 Free PMC article.
28 results