Trisomy 21
Mostrando 1-12 de 142 artigos, teses e dissertações.
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1. Premature aging in adults with Down syndrome: genetic, cognitive and functional aspects
Resumo Objetivo: Descrever aspectos genéticos e características de envelhecimento precoce na síndrome de Down. Método: Estudo descritivo transversal de 28 indivíduos com síndrome de Down, entre 20 e 54 anos de idade (13 mulheres e 15 homens), atendidos em programa universitário de genética comunitária por solicitação de instituições filantróp
Rev. bras. geriatr. gerontol.. Publicado em: 24/10/2019
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2. Development of a comprehensive noninvasive prenatal test
Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to gene
Genet. Mol. Biol.. Publicado em: 16/07/2018
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3. Risk Factors for Delayed Extubation after Ventricular Septal Defect Closure: a Prospective Observational Study
Objective: The objective of our study was to determine the feasibility of early extubation and to identify the risk factors for delayed extubation in pediatric patients operated for ventricular septal defect closure. Methods: A prospective, observational study was carried out at our Institute. This study involved consecutive 135 patients undergoing ventric
Braz. J. Cardiovasc. Surg.. Publicado em: 2017-08
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4. Análise dos resultados dos procedimentos invasivos para estudo do cariótipo fetal / Fetal maternal results following invasive procedures for fetal kariotype
Objective: The purpose of this study is to characterize the indications of pregnant women who seek the Fetal Medicine Service of Hospital das Clínicas of São Paulo University to perform invasive diagnostic procedures and evaluate the results of fetal karyotypes and their pregnancies from February 2005 to December 2009. Methods: Retrospective observational
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 07/11/2012
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5. Investigação dos polimorfismos do gene PLAC4 na população brasileira / Investigation of PLAC4 gene polymorphisms in the Brazilian population
Duzentas amostras de DNA obtidas de voluntários brasileiros não aparentados foram triadas para SNPs em uma região de 4079 pares de bases do gene PLAC4 através de reação em cadeia da polimerase (PCR) - utilizando o kit Taq Platinum DNA polymerase (Invitrogen, USA) ciclada em termociclador Eppendorf Mastercycle Gradient (Eppendorf, Germany); e posterior
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 07/03/2012
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6. Síndrome de Down e polimorfismos em genes envolvidos no metabolismo do folato.
A síndrome de Down (SD) é uma doença genética complexa resultante, principalmente, da presença de três cópias do cromossomo 21. É a cromossomopatia humana mais frequente e, na maioria dos casos (cerca de 95%), decorrente da não disjunção cromossômica materna, ocorridas durante a meiose I. Recentes estudos sugerem que a etiologia do risco materno
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 12/12/2011
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7. Força de preensão palmar e o índice de massa corporal em indivíduos com trissomia 21
G rip strength involves holding an object between his fingers partially flexed, as opposed to the backpressure generated by the palm, the thenar eminence and the distal segment of the thumb by encouraging the full use of force. With the exception of locomotor activity, grip strength is used in almost all activities of daily living. Anthropometric data such a
Publicado em: 2010
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8. Comparative study of ribosomal genes activity in leukocytes and gingival tissues from Down syndrome individuals, in relation to age. / Estudo comparativo da atividade dos genes ribossômicos em mucosa bucal (gengiva) e leucócitos de indivíduos com Síndrome de Down em relação à idade.
Cytogenetic and molecular studies have shown significant reduction in the ribosomal genes activity in lymphocyte and fibroblasts cells from older Trisomy 21 or Down syndrome (DS) individuals as well as in lymphocyte and neural cortical cells from Alzheimers disease patients. We have proposed the study of rRNA levels in older and younger DS subjects in two di
Publicado em: 2009
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9. Caracterização do espectro fenotípico de pacientes com fissuras labiopalatinas associadas a múltiplas anomalias congênitas e alterações cromossômicas estruturais / Characterization of phenotypic spectrum in patients with cleft lip and palate associated with multiple congenital anomalies and structural chromosome abnormalities
Objective: Characterization of syndromes presented by patients with cleft lip and palate (CL/P) associated with associated with multiple congenital anomalies (MMC) and chromosomal abnormalities and expansion of the phenotyipc spectrum of syndromes already described. Setting: Human Cytogenetics Laboratory and Clinical Genetics Service, HRAC-USP, Bauru-SP. Par
Publicado em: 2009
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10. Mecanismos inflamatórios e imunológicos na síndrome de Down / Inflammatory and immunological mechanism in Downs syndrome
In recent years there has been an increase in life expectancy of individuals with Down´s syndrome (DS), with death causes differ from the general population. Some studies have shown that the immune response differs throughout life with changes related to aging. The RCAN1 gene (regulator of calcineurin type 1), located in the q22.12 region of chromosome 21 i
Publicado em: 2009
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11. Characterization of chromosome rearrangements in patients with multiple congenital malformation and/or mental retardation (MCM/MR) / Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)
Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplicat
Publicado em: 2008
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12. The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome
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 reductas
Brazilian Journal of Medical and Biological Research. Publicado em: 17/12/2007