Search Results - "Castilla, E.E."

MSX1 and TGFB3 Contribute to Clefting in South America by Vieira, A.R., Orioli, I.M., Castilla, E.E., Cooper, M.E., Marazita, M.L., Murray, J.C.

“…MSX1 and TGFB3 have been proposed as genes in which mutations may contribute to non-syndromic forms of oral clefts; however, an interaction between these genes…”
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Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only by Vieira, A R, Cooper, M E, Marazita, M L, Castilla, E E, Orioli, I M

“…In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed…”
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Latin American Collaborative Study of Congenital Malformations (ECLAMC): a model for health collaborative studies by Poletta, F A, Gili, J A, Castilla, E E

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Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate by Jezewski, P A, Vieira, A R, Nishimura, C, Ludwig, B, Johnson, M, O’Brien, S E, Daack-Hirsch, S, Schultz, R E, Weber, A, Nepomucena, B, Romitti, P A, Christensen, K, Orioli, I M, Castilla, E E, Machida, J, Natsume, N, Murray, J C

“…MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human…”
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Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations by Letra, A., Bjork, B., Cooper, M.E., Szabo-Rogers, H., Deleyiannis, F.W.B., Field, L.L., Czeizel, A.E., Ma, L., Garlet, G.P., Poletta, F.A., Mereb, J.C., Lopez-Camelo, J.S., Castilla, E.E., Orioli, I.M., Wendell, S., Blanton, S.H., Liu, K., Hecht, J.T., Marazita, M.L., Vieira, A.R., Silva, R.M.

“…We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2…”
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Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries by Shimizu, T, Deeley, K, Briseño-Ruiz, J, Faraco, Jr, I M, Poletta, F A, Brancher, J A, Pecharki, G D, Küchler, E C, Tannure, P N, Lips, A, Vieira, T C S, Patir, A, Yildirim, M, Mereb, J C, Resick, J M, Brandon, C A, Cooper, M E, Seymen, F, Costa, M C, Granjeiro, J M, Trevilatto, P C, Orioli, I M, Castilla, E E, Marazita, M L, Vieira, A R

“…Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan…”
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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population by Mann, P C, Cooper, M E, Ryckman, K K, Comas, B, Gili, J, Crumley, S, Bream, E N A, Byers, H M, Piester, T, Schaefer, A, Christine, P J, Lawrence, A, Schaa, K L, Kelsey, K J P, Berends, S K, Momany, A M, Gadow, E, Cosentino, V, Castilla, E E, López Camelo, J, Saleme, C, Day, L J, England, S K, Marazita, M L, Dagle, J M, Murray, J C

“…Objective: To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate…”
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Regional analysis on the occurrence of oral clefts in South America by Poletta, F.A., Castilla, E.E., Orioli, I.M., Lopez-Camelo, J.S.

“…The aim of this work was to search for unequal birth prevalence rates (BPRs) of cleft lip ± cleft palate (CL/P), and cleft palate only (CPO), among different…”
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Novel Cleft Susceptibility Genes in Chromosome 6q by Letra, A., Menezes, R., Fonseca, R.F., Govil, M., McHenry, T., Murphy, M.J., Hennebold, J.D., Granjeiro, J.M., Castilla, E.E., Orioli, I.M., Martin, R., Marazita, M.L., Bjork, B.C., Vieira, A.R.

“…Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A…”
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Brazil: public health genomics by Castilla, E E, Luquetti, D V

“…Brazil represents half of South America and one third of Latin America, having more than 186 million inhabitants. After China and India it is the third largest…”
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Contributions of PTCH Gene Variants to Isolated Cleft Lip and Palate by Mansilla, M. A., Cooper, M. E., Goldstein, T., Castilla, E. E., Camelo, J. S. Lopez, Marazita, M. L., Murray, J. C.

“…Objective Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may…”
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The epidemiology of conjoined twins in Latin America by Castilla, E E, Lopez-Camelo, J S, Orioli, I M, Sánchez, O, Paz, J E

“…Twenty-three cases of symmetrical conjoined twins were registered by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) in 1,714,952…”
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Safety of tetanus toxoid in pregnant women : a hospital-based case-control study of congenital anomalies by SILVEIRA, C. M, CACERES, V. M, DUTRA, M. G, LOPES-CAMELO, J, CASTILLA, E. E

“…Reported are the results of the Latin American Collaborative Study of Congenital Malformations (ECLAMC), a hospital-based case-control study of 34,293…”
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Stillbirth rate and associated risk factors among 869 750 Latin American hospital births 1982-1986 by Gadow, E C, Castilla, E E, Lopez Camelo, J, Queenan, J T

“…Fetal death is essential to evaluate perinatal outcome. Accurate stillbirth rate however is difficult to obtain; this is especially so in developing countries…”
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An International Case-Control Study on Hypospadias the Problem with Variability and the Beauty of Diversity by Källén, B., Castilla, E. E., Robert, E., Lancaster, P. A. L., Kringelbach, M., Mutchinick, O., Martínez-Frias, M. L., Mastroiacovo, P.

“…The paper describes problems and advantages in an international cooperative study of a case-control design, aimed at investigating the possible association…”
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Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta by Orioli, I M, Castilla, E E, Scarano, G, Mastroiacovo, P

“…The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were…”
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Epidemiological analysis of rare polydactylies by Castilla, Eduardo E., da Fonseca, Regina Lugarinho, da Graça Dutra, Maria, Bermejo, Eva, Cuevas, Lourdes, Martínez-Frías, Maria-Luísa

“…This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth…”
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