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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) International Journal of Morphology (1) Autor Biselli,J.M (1) Cavalcanti,Denise P. (1) Eberlin,M.N (1) Goloni-Bertollo,E.M (1) Haddad,R (1) Lucon,Danielle R. (1) Pavarino-Bertelli,E.C (1) Starbuck,John M (1) Zanchetta,Luciene M. (1) Mais... Palavra-chave Trisomy 21 (3) Down syndrome (2) 3dMD (1) Anencephaly (1) Chimerism (1) Euclidean distance matrix analysis (EDMA) (1) Homocysteine (1) Mass spectrometry (LC-MS/MS) (1) Polymorphism (1) Principal coordinates analysis (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Journal article (1) Ano 2014 (1) 2008 (1) 2006 (1) País Brazil (2) Chile (1) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects Genet. Mol. Biol. Lucon,Danielle R.; Zanchetta,Luciene M.; Cavalcanti,Denise P.. Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype. Tipo: Info:eu-repo/semantics/article Palavras-chave: Chimerism; Anencephaly; Trisomy 21. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100006 Quantitative Evaluation of the Facial Morphology of a Tolteca Figurine from Mexico using Geometric Morphometric Approaches International Journal of Morphology Starbuck,John M. Morphometric approaches can be combined with 2D or 3D imaging to quantitatively evaluate craniofacial medical conditions depicted in material culture and to learn more about the culture being studied. A terra-cotta figurine (circa 500 A.D.) from the Tolteca culture of Mexico has previously been qualitatively "diagnosed" with Down syndrome (DS) based on the presence or absence of facial features typically associated with trisomy 21. The purpose of this research is to quantitatively test the hypothesis that the Tolteca figurine exhibits facial features consistent with DS. Landmarks (n = 24) were acquired from sex- and age-matched (5-20 yrs) facial images of DS individuals (n = 32), euploid individuals (n = 32), and the Tolteca figurine. Landmark coordinates... Tipo: Journal article Palavras-chave: Trisomy 21; Down syndrome; 3dMD; Euclidean distance matrix analysis (EDMA); Principal coordinates analysis. Ano: 2014 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022014000200021 The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome BJMBR Biselli,J.M; Goloni-Bertollo,E.M; Haddad,R; Eberlin,M.N; Pavarino-Bertelli,E.C. Individuals with Down syndrome (DS) present decreased homocysteine (Hcy) concentration, reflecting a functional folate deficiency secondary to overexpression of the cystathionine ß-synthase gene. Since plasma Hcy may be influenced by genetic polymorphisms, we evaluated the influence of C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR), of A2756G polymorphism in the methionine synthase gene (MTR), and of A80G polymorphism in the reduced folate carrier 1 gene on Hcy concentrations in Brazilian DS patients. Fifty-six individuals with free trisomy 21 were included in the study. Plasma Hcy concentrations were measured by liquid chromatography_tandem mass spectrometry with linear regression coefficient r² = 0.9996, average... Tipo: Info:eu-repo/semantics/article Palavras-chave: Down syndrome; Trisomy 21; Polymorphism; Homocysteine; Mass spectrometry (LC-MS/MS). Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000100006 Registros recuperados: 3 Primeira ... 1 ... Última

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