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Article(5)
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American Journal of Medical Genetics, Part A(2)
Medicina Clinica(2)
American Journal of Medical Genetics(1)
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:scopusFolic acid dose in the prevention of congenital defects
ArticleAbstract: BACKGROUND AND OBJECTIVE: Synthetic folic acid (FA) is in the form of pteroylmonoglutamate (PGA), aPalabras claves:Doses, epidemiology, Folic acid, PteroylmonoglutamateAutores:Alsina M.N., Andrés M., Aparicio P., Arroyo I., Barcia J.M., Bermejo E., Beseler B., Blanco M., Burón E., Calvo M.J., Canduela V., Caubet I., Centeno F., Climent S., Conde J.F., Contessotto C., Contreras J., Cózar J.A., Cuevas L., Egües J., Esteban M.V., Félix V., Fernández E., Foguet A., Galán E., Gallardo F.L., Gallego S., García A., García C., Garcia M.J., Garijo C., Gomar J.L., Gómez H., Gómez-Ullate J., González De Dios J., Hernández F., Huertas H., Jiménez F., Jovani C., Lara A., López J.A., López S., Marco J.J., Martí J.J., Martín F., Martín J.M., Martínez A., Martínez M.A., Martínez M.N., Martínez S., Martínez-Frías M.L., Marugán V., Mayoral B., Moral A., Mousallem A.G., Muñoz M.S., Nieto C., Oliván Del Cacho M.J., Paisán L., Peñas A., Pérez J.L., Pi G., Puig I., Rodríguez A., Rodríguez M.C., Rodríguez-Pinilla E., Rosal J., Rota L., Rubio M.J., Salvat F., Sánchez C., Sanchis A., Serrano A., Silveira M., Suárez M.E., Suay M., Tapia J.M., Torres S., Vázquez M.S., Vizcaíno C., Washington Stalin García Cuenta, Zuazo E.Fuentes:scopusEpidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?
ArticleAbstract: In a previous study on single umbilical artery (SUA) and its association with congenital defects, wePalabras claves:Angiomas, Congenital defects, frequency, Klippel-Trenaunay syndrome, Single umbilical artery, SÚA, Vascular malformationsAutores:Andrés M., Aparicio P., Arroyo I., Azúa De Brea B., Barcia J.M., Barranco F., Bermejo E., Beseler B., Blanco M., Burón E., Canduela V., Caubet I., Centeno F., Clavo M.J., Climent S., Conde J.F., Contessotto C., Contreras J., Cózar J.A., Egües J., Félix V., Fernández E., Foguet A., Galán E., García A., García C., Garcia M.J., Garijo C., Gomar J.L., Gómez H., Gómez-Ullate J., González De Dios J., Hernández F., Huertas H., Jovani C., Lara A., Lertxundi M.M., López J.A., López J.M., López S., Marco J.J., Martí J.J., Martín F., Martín J.M., Martínez A., Martínez M., Martínez M.A., Martínez M.N., Martínez S., Martínez-Frías M.L., Mendioroz J., Mousallem A.G., Muñoz M.S., Nieto C., Oliván Del Cacho M.J., Paisán L., Peñas A., Pérez J.L., Puig I., Ramos A., Riano I., Robles P., Rodríguez A., Rodríguez M.C., Rodríguez-Pinilla E., Rosal J., Rota L., Rubio M.J., Sánchez C., Sanchis A., Silveira M., Suárez M.E., Tapia J.M., Vázquez M.S., Washington Stalin García CuentaFuentes:scopusDoes single umbilical artery (SUA) pbkp_redict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants
ArticleAbstract: Most studies associating different types of malformations with the presence of a single umbilical arPalabras claves:Congenital defects, epidemiology, frequency, Malformations, Prenatal diagnosis, Single umbilical artery, SÚAAutores:Alsina M.N., Andrés M., Aparicio P., Arroyo I., Barcia J.M., Bermejo E., Beseler B., Blanco M., Burón E., Calvo M.J., Canduela V., Caubet I., Centeno F., Climent S., Conde J.F., Contessotto C., Contreras J., Cózar J.A., Egües J., Esteban M.V., Félix V., Fernández E., Foguet A., Galán E., Gallardo F.L., Gallego S., García A., García C., Garcia M.J., Garijo C., Gomar J.L., Gómez H., Gómez-Rodríguez F., Gómez-Ullate J., González De Dios J., Hernández F., Huertas H., Jiménez F., Jovani C., Lara A., López J.A., López S., Marco J.J., Martí J.J., Martín F., Martín J.M., Martínez A., Martínez M.A., Martínez M.N., Martínez S., Martínez-Frías M.L., Marugán V., Mayoral B., Moral A., Mousallem A.G., Muñoz M.S., Nieto C., Oliván Del Cacho M.J., Paisán L., Peñas A., Pérez J.L., Pi G., Prieto-Merino D., Puig I., Rodríguez A., Rodríguez M.C., Rodríguez-Pinilla E., Rosal J., Rota L., Rubio M.J., Salvat F., Sánchez C., Sanchis A., Serrano A., Silveira M., Suárez M.E., Suay M., Tapia J.M., Torres S., Vázquez M.S., Vizcaíno C., Washington Stalin García Cuenta, Zuazo E.Fuentes: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:scopus