Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Márcia Gonçalves"'
Autor:
Márcia R. Amorim, Thereza Quirico-Santos, Cláudia de Melo Moura, Márcia Gonçalves Ribeiro, Hazel N. Barboza, Marcelo Aguiar Costa-Lima, Joissy Aprigio
Publikováno v:
Journal of Molecular Neuroscience. 70:1410-1414
Down syndrome (DS) is the most common form of mental disability of genetic etiology. Nondisjunction of chromosome 21 is the leading cause of the syndrome. In general, free trisomy 21 cases originate from missegregation in maternal meiosis. Several re
Autor:
Isaura Ribeiro, Dulce Quelhas, Lúcia Lacerda, Nicole Mineiro, Francisco Ferraz Laranjeira, Márcia Gonçalves Ribeiro, Lilian de Mattos Carvalho, Alexandre L. Seabra, Eduardo Vieira Neto
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1
Autor:
Márcia Gonçalves Ribeiro, Marcelo Aguiar Costa-Lima, Julyana Ribeiro, Claudia Melo Moura, Márcia R. Amorim, Pedro Ribeiro Bastos
Publikováno v:
Saudi Journal of Biological Sciences, Vol 25, Iss 1, Pp 101-104 (2018)
Down syndrome (DS) is the most common form of human genetic mental retardation. Several polymorphisms in genes coding folic acid cycle enzymes have been associated to the risk of bearing a DS child; however, the results are controversial. S-adenosyl-
Autor:
Carlos Eduardo Steiner, Héctor Yuri Conti Wanderley, Melanie Walter, Soraia Poloni, Johanna Kugele, Giovana Regina Weber Hoss, Hélio Fernandes da Rocha, Fernanda Sperb-Ludwig, Eugênia Ribeiro Valadares, Pricila Bernardi, Maria Juliana Rodovalho Doriqui, Chong Ae Kim, Gerson Carvalho, Ney Boa-Sorte, Carolina Araujo Moreno, Charles Marques, Lorena Gallego-Villar, Márcia Gonçalves Ribeiro, Taciane Borsatto, Carolina Fischinger Moura de Souza, Emília Katiane Embiruçu, Ida Vanessa Doederlein Schwartz, Henk J. Blom, Osvaldo Alfonso Pinto Artigalas
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
BACKGROUND Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. METHODS gDNA samples
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb17972d8d617e56ccd1694c05b9ab9