Search Results - "Acosta, A X"

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability by Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

“…Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number…”
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Types of marriages, population structure and genetic disease by Machado, T M B, Bomfim, T F, Souza, L V, Soares, N, Santos, F L, Acosta, A X, Abe-Sandes, K

“…A high occurrence rate of consanguineous marriages may favour the onset and increased frequency of autosomal recessive diseases in a population. The population…”
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Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort by Holtz, A.P., Souza, L.T., Ribeiro, E.M., Acosta, A.X., Lago, R.M.R.S., Simoni, G., Llerena, J.C., Félix, T.M.

“…Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian…”
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Clinical and biochemical studies in mucopolysaccharidosis type II carriers by Schwartz, I. V. D, Pinto, L. L. C, Breda, G, Lima, L, Ribeiro, M. G, Mota, J. G, Acosta, A. X, Correia, P, Horovitz, D. D. G, Porciuncula, C. G. G, Lipinski-Figueiredo, E, Fett-Conte, A. C, Oliveira Sobrinho, R. P, Norato, D. Y. J, Paula, A. C, Kim, C. A, Duarte, A. R, Boy, R, Leistner-Segal, S, Burin, M. G, Giugliani, R

“…The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a…”
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Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients by Brusius-Facchin, A.C., Schwartz, I.V.D., Zimmer, C., Ribeiro, M.G., Acosta, A.X., Horovitz, D., Monlleó, I.L., Fontes, M.I.B., Fett-Conte, A., Sobrinho, R.P. Oliveira, Duarte, A.R., Boy, R., Mabe, P., Ascurra, M., de Michelena, M., Tylee, K.L., Besley, G.T.N., Garreton, M.C.V., Giugliani, R., Leistner-Segal, S.

“…In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of…”
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Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil by Acosta, A. X., Abé-Sandes, K., Giugliani, R., Bittles, A. H.

“…Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194…”
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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene by Cury, G.K., Matte, U., Artigalás, O., Alegra, T., Velho, R.V., Sperb, F., Burin, M.G., Ribeiro, E.M., Lourenço, C.M., Kim, C.A., Valadares, E.R., Galera, M.F., Acosta, A.X., Schwartz, I.V.D.

“…Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the…”
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Distribution of SDF1-3'A polymorphisms in three different ethnic groups from Brazil by Grimaldi, Rogerio, Acosta, AX, Machado, TMB, Bomfim, TF, Galvão-Castro, B

“…A mutation described as a G-to-A transition has been reported in SDF-1 gene (SDF1-3'A), being prevalent in all ethnic groups, except in Africans. This mutation…”
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Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria by Acosta, A.X., Silva Jr, W.A., Carvalho, T.M., Gomes, M., Zago, M.A.

“…In the present study, 115 Brazilian families with phenylketonuria (PKU), mainly from the Southeast of the country, were studied using three laboratory methods…”
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Raine dysplasia: a Brazilian case with a mild radiological involvement by Acosta, A X, Peres, L C, Chimelli, L C, Pina-Neto, J M

“…We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with…”
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Syndrome of psychomotor retardation, bulbous nose, and epilepsy (Hernandez syndrome): a Brazilian case by Melo, D G, Acosta, A X, de Pina-Neto, J M

“…A new case of Hernandez syndrome is described in a 16-year-old Brazilian girl. The syndrome consists mainly of psychomotor retardation, epilepsy, a bulbous…”
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Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria by Acosta, A.X., Silva Jr, W.A., Carvalho, T.M., Zago, M.A.

“…In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with…”
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Clinical genetics in developing countries: the case of Brazil by Marques-de-Faria, Antonia Paula, Ferraz, Victor E Faria, Acosta, Angelina Xavier, Brunoni, Décio

“…There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually…”
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Study of the CCR5-m303 mutation in three different ethnic groups from Brazil by Grimaldi, R, Acosta, A X, Cabral-Oliveira, F C, Brites, C, Galvao-Castro, B

“…The main coreceptor gene involved in HIV-1 infection is CCR5 beta chemokine receptor gene for which several mutations have been described, some of which have…”
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A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics by Gjetting, Torben, Romstad, Anne, Haavik, Jan, Knappskog, Per M., Acosta, Angelina X., Silva, W.Araújo, Zago, Marco A., Guldberg, Per, Gttler, Flemming

“…Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.1) are associated with various degrees of hyperphenylalaninemia, including classical…”
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A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism by Acosta, A.X., Peres, L.C., Mazzucatto, L.F., Pina-Neto, J.M.

“…Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous…”
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Distribution of SDF1-3’A polymorphisms in three different ethnic groups from Brazil by Grimaldi, Rogerio, Acosta, A.X., Machado, T.M.B., Bomfim, T.F., Galvão-Castro, B.

“…A mutation described as a G-to-A transition has been reported in SDF-1 gene (SDF1-3’A), being prevalent in all ethnic groups, except in Africans. This mutation…”
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Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior by Steiner, Carlos Eduardo, Acosta, Angelina Xavier, Guerreiro, Marilisa Mantovani, Marques-de-Faria, Antonia Paula

“…We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic…”
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Distribution of the CCR2-64I allele in three Brazilian ethnic groups by Acosta, Angelina Xavier, Sampaio, Rogério Grimaldi, Spínola, Juliana Lima, Galvão-Castro, Bernardo

“…CCR2 is a member of the superfamily of seven transmembrane domain G protein-coupled receptors, the largest receptor superfamily in the human genome. CCR2 acts…”
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Gross motor function classification system in patients with mucopolysaccharidosis by Matos, M A, Barreto, R, Quadros, V, Penha, C E, Acosta, A X

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