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Article(3)
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American Journal of Medical Genetics(1)
Medicina Clinica(1)
Progresos en Obstetricia y Ginecologia(1)
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Ginecología, obstetricia, pediatría, geriatría(2)
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scopus(3)
Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population
ArticleAbstract: BACKGROUND AND OBJECTIVE: Studies on different populations have shown a great variability of the frePalabras claves:1298A-C MTHFR, 66A-G MTRR, 677C-T MTHFR, Down syndrome, Frequencies, Genotypes, One carbone methabolism, polymorphismsAutores:Aparicio P., Arroyo I., Barcia J.M., Bermejo E., Beseler B., Blanco M., Canduela V., Castro M., Centeno F., Climent S., De Azúa Brea B., Desviat L.R., Félix V., Fernández E., Galán E., García A., Garcia M.J., Garijo C., Gomar J.L., Lara A., Leal F., Lertxundi M.M., López J.A., López S., Mansilla E., Marco J.J., Martín F., Martínez A., Martínez M., Martínez M.N., Martínez S., Martínez-Fernández M.L., Martínez-Frías M.L., Mousallem A.G., Nieto C., Paisán L., Peñas A., Perez B., Puig I., Riano I., Rodríguez L., Rodríguez-Pinilla E., Sánchez C., Sanchis A., Suárez M.E., Suay M., Tapia J.M., Ugarte M., Washington Stalin García CuentaFuentes:scopusMaternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR geness: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
ArticleAbstract: This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C >Palabras claves:1298A-C MTHFR, 66A-G MTRR, 677C-T MTHFR, Down syndrome, folate, Functional polymorphisms, homocysteine, Methionine synthase reductase, Methylenetetrahydrofolate reductase, One-carbon metabolismAutores:Aparicio P., Arroyo I., Azúa De Brea B., Barcia J.M., Bermejo E., Beseler B., Blanco M., Canduela V., Castro M., Centeno F., Climent S., Desviat L.R., Félix V., Fernández E., Galán E., García A., Garcia M.J., Garijo C., Gomar J.L., Gómez-Rodríguez F., Lara A., Leal F., Lertxundi M.M., López J.A., López S., Mansilla E., Marco J.J., Martín F., Martínez A., Martínez M.N., Martínez S., Martínez-Fernández M.L., Martínez-Frías M.L., Mousallem A.G., Nieto C., Paisán L., Peñas A., Perez B., Prieto-Merino D., Puig I., Riano I., Rodríguez L., Rodríguez-Pinilla E., Sánchez C., Sanchis A., Suárez M.E., Suay M., Tapia J.M., Ugarte M., Washington Stalin García CuentaFuentes:scopusTrends in the frequency of Down syndrome in the infants of young mothers in the autonomous communities of Spain
ArticleAbstract: Introduction: There is a universally proven relationship between maternal age and the risk of havingPalabras claves:Autonomous communities of Spain, Down syndrome, ECEMC, Maternal age, PREVALENCE, REpIERAutores:Andrés M., Aparicio P., Arroyo I., Ayala M., Azúa De Brea B., Balaguer J.A., Barcia J.M., Barranco F., Bermejo E., Beseler B., Blanco M., Burón E., Calvo M.J., Canduela V., Cardeñosa Marín N., Castro S., Caubet I., Centeno F., Climent S., Colombo A., Conde J.F., Contessotto C., Contreras J., Cózar J.A., Cucalón F., Cuevas L., Durán Pla E., Egües J., Espinosa M.J., Félix V., Fernández L., Fernńdez E., Foguet A., Galán E., García A., García C., García M., Garcia M.J., Garijo C., Gomar J.L., Gómez H., Gómez-Rodríguez F., Gómez-Ullate J., González De Dios J., Grondona F.L., Güemes I., Guillén Enríquez F.J., Hernández F., Huertas H., Iglesias M.J., Jovani C., Lara A., Leal A., Lertxundi M.M., López J.A., López J.M., López S., Mansilla E., Marco J.J., Margolles Martins M., Martí J.J., Martín F., Martín J.M., Martínez A., Martínez M.A., Martínez M.N., Martinez Olorón P., Martínez S., Martínez-Fernández M.L., Martínez-Frías M.L., Mousallem A.G., Muñoz M.S., Nieto C., Oliván Del Cacho M.J., Paisán L., Peñas A., Pérez J.L., Posada de la Paz M., Puig I., Ramos A., Riano I., Robles P., Rodríguez A., Rodríguez-Pinilla E., Rosa A., Rosal J., Rota L., Rubio M.J., Ruiz Ceballos L.M., Sánchez C., Sanchis A., Serrana A., Serrano-Aguilar P.G., Silveira M., Suárez M.E., Suay M., Tapia J.M., Vazquez M.S., Washington Stalin García CuentaFuentes:scopus