Aneuploidy
Mostrando 1-12 de 200 artigos, teses e dissertações.
-
1. Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil
RESUMO Doença de Alzheimer (DA) tem como principal característica a deterioração das funções cerebrais. Quanto a sua etiologia ainda é complexa e indefinida, apesar do progresso alcançado na compreensão de seus mecanismos neurológicos, infecciosos, bioquímicos, genéticos e citogenéticos. Considerando isto, nós investigamos a presença de altera
Arq. Neuro-Psiquiatr.. Publicado em: 10/01/2020
-
2. Validation of QF-PCR for prenatal diagnoses in a Brazilian population
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A Chro
Clinics. Publicado em: 2017-07
-
3. DNA Aneuploidy in Malignant Salivary Gland Neoplasms is Independent of USP44 Protein Expression
Resumo Instabilidade cromossômica acarretando aneuploidia é um dos fatores marcantes de neoplasias malignas humanas. USP44 (peptidase específica de ubiquitina 44) é uma importante molécula que exerce um papel regulador no ciclo celular e sua perda pode acarretar em segregação cromossômica deficiente, aneuploidia e desenvolvimento de tumores in vivo.
Braz. Dent. J.. Publicado em: 2017-04
-
4. Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma
It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses
Braz J Med Biol Res. Publicado em: 25/07/2014
-
5. Reprogenetics: preimplantational genetics diagnosis
Preimplantational Genetics Diagnosis (PGD) is requested by geneticists and reproductive specialists. Usually geneticists ask for PGD because one or both members of the couple have an increased genetic risk for having an affected offspring. On the other hand, reproductive specialists ask for embryo aneuploidy screening (PGS) to assures an euploid embryo trans
Genet. Mol. Biol.. Publicado em: 2014
-
6. 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
-
7. Micronucleated lymphocytes in parents of Down syndrome children
Down syndrome (DS) is the most common disease due to an autosomal aneuploidy in live born children and also the major known genetic cause of mental retardation. The risk of a DS pregnancy increases substantially with increasing maternal age. However, several women aged less than 35 years at conception have a child with DS. The micronucleus (MN) assay can ide
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-07
-
8. Relação entre a medida da translucência nucal no primeiro trimestre e a presença de marcadores ultrassonográficos para a Síndrome de Down no segundo trimestre da gestação / Second trimester soft markers: relation to first trimester nuchal translucency
Genetic sonogram following first trimester combined screening appears to substantially increase detection rates for Down syndrome but it relies on the unproved assumption of independence between these tests. In this study we have investigated the relation of first trimester nuchal translucency to a series of secondtrimester soft markers. Nuchal translucency
Publicado em: 2011
-
9. Clinicopathological features and DNA ploidy analysis of tongue squamous cell carcinoma in young patients : a collaborative international study / Analise das caracteristicas clinico-patologicas e da ploidia do DNA em pacientes jovens com carcinoma espinocelular de lingua : um estudo colaborativo internacional
Oral squamous cell carcinoma (SCC) predominately affects elderly patients and frequently develops in association with tobacco and alcohol consumption. However, an increasing of this malignant disease has been observed in patients younger than 40 years of age, who are not exposed to the traditional risk factors. Data regarding oral cancer in young patients ar
Publicado em: 2010
-
10. Interação da crisotila com células de carcinoma de pulmão humano em cultura: interferência com a mitose utilizando genes repórteres e microscopia em tempo real e estudo do potencial genotóxico / Chrysotile interaction with human lung carcinoma cell culture: interference on mitosis using report genes and real time microscopy and the study of genotoxic potential
Asbesto é um nome geral dado a seis tipos de fibras minerais encontradas naturalmente na crosta terrestre. Estas fibras vêm sendo exploradas industrialmente desde 1970, porém diversos trabalhadores expostos às fibras apresentaram patologias no trato respiratório, como fibroses e carcinomas. Alguns tipos de fibra foram banidos do mercado, porém o tipo d
Publicado em: 2010
-
11. Análise do número de cópias dos genes IGFIR, SF1 e FGFR4 em tumores adrenocorticais de crianças e adultos / Analysis of copy number variations of IGF1R, SF1 and FGFR4 genes in adrenocortical tumors from children and adults
Introduction: A high incidence of adrenocortical tumors in children and adults has been observed in Southern and Southeastern regions of Brazil. Overexpression of IGF1R, SF1 and FGFR4 genes have been described in adrenocortical tumors. Despite of overexpression be a common event in several neoplasias, the molecular mechanism implicated in this upregulation r
Publicado em: 2010
-
12. Prevalence of the polymorphism MTHFR a1298C and not MTHFR C677T is related to chromosomal aneuploidy in brazilian Turner Syndrome Patients: errata
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2009-02