Copy Number Variations
Mostrando 1-12 de 46 artigos, teses e dissertações.
-
1. Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
SUMMARY OBJECTIVE: Hepatocellular carcinoma is the most common primary malignant liver tumor. Mitochondrial DNA copy number has been shown to be associated with various malignancies. However, there has not been any study on the absolute quantification of mtDNA copy number in hepatocellular carcinoma. The aim of this study was to develop a new method for abs
Revista da Associação Médica Brasileira. Publicado em: 2022
-
2. Quantification of mitochondrial DNA damage and copy number in circulating blood of patients with systemic sclerosis by a qPCR-based assay,
Abstract Background: Although not fully understood, oxidative stress has been implicated in the pathogenesis of different autoimmune diseases such as systemic sclerosis. Accumulating evidence indicates that oxidative stress can induce mitochondrial DNA (mtDNA) damage and variations in mtDNA copy number (mtDNAcn). Objective: The aim of this study was to exp
An. Bras. Dermatol.. Publicado em: 2020-06
-
3. The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients
RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralo
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
-
4. What determines mortality in malignant pheochromocytoma? – Report of a case with eighteen-year survival and review of the literature
SUMMARY Pheochromocytoma (PCC) is a tumor derived from adrenomedullary chromaffin cells. Prognosis of malignant PCC is generally poor due to local recurrence or metastasis. We aim to report a case of malignant PCC with 18-year survival and discuss which factors may be related to mortality and long-term survival in malignant pheochromocytoma. The patient, a 4
Arch. Endocrinol. Metab.. Publicado em: 2018-03
-
5. Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagno
Clinics. Publicado em: 2017-09
-
6. Estudos de comorbidades e dos aspectos genéticos de pacientes com transtorno do espectro autista / Study of comorbidities and genetic aspects in autism spectrum disorder patients
O transtorno do espectro autista (ASD) é uma doença clinica e geneticamente heterogênea, com mecanismo etiológico ainda pouco conhecido. Assim, os principais objetivos deste trabalho foram descrever as características clínicas e genéticas de pacientes brasileiros com ASD, bem como determinar o risco de recorrência e a herdabilidade. Verificamos que a
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 25/06/2012
-
7. Investigação de alterações nos genes short stature homeobox e receptor do hormônio de crescimento em pessoas com baixa estatura idiopática no Distrito Federal
A baixa estatura é uma condição que afeta 2,3% da população. Dentro deste grupo, encontra-se a Baixa Estatura Idiopática (BEI), definida como estatura inferior a 2 desvio-padrões (SD) da altura média correspondente a uma determinada idade, sexo e grupo populacional sem nenhuma outra anomalia esquelética ou sistêmica, distúrbios endócrinos, nutric
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/03/2012
-
8. Esquizofrenia e síndrome da deleção 22q11.2: Caracterização de genes relevantes. / Schizophrenia; deletion syndrome; genes
Background: Schizophrenia is a severe, persistent, debilitating and poorly understood psychiatric disorder. It is a complex disease with heterogeneous fenotype. Among the genetic factors that might have a role in schizophrenia, it is included 22q11.2 deletion. Objectives: We aimed to investigate chromosomal abnormalities, UFD1L and ZDHHC8 polymorphisms, TBX1
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 22/02/2011
-
9. 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
-
10. Pesquisa de microrrearranjos em genes candidatos a surdez sindrômica e não-sindrômica / Screening of microimbalances in candidate genes for syndromic and nonsyndromic deafness
A complexidade da fisiologia da audição resulta da participação e interação de produtos de grande número de genes, razão pela qual a surdez hereditária exibe enorme heterogeneidade genética. Estudos moleculares nas duas últimas décadas permitiram a identificação de vários genes responsáveis por surdez; entretanto, muitos ainda restam ser iden
Publicado em: 2010
-
11. Estudos ecogenômicos e bioprospectivos de Shewanella ssp
Bacteria trom Shewanella and Geobacter ganera are the most studied iron-reducing microorganisms particularly due to their electron transport systems and contribution to some industrial and environmental problems, including steel corrosion, bioenergy and bioremediation of petroleum-impacted sites. The present study was focused in two ways: the first is an in
Publicado em: 2009
-
12. Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS)
Manipulating the mouse genome is a widespread technology with important applications in many biological fields ranging from cancer research to developmental biology. Likewise, correlations between copy number variations (CNVs) and human diseases are emerging. We have developed the reference-query pyrosequencing (RQPS) method, which is based on quantitative p
Cold Spring Harbor Laboratory Press.