Comparative Genomic Hybridization
Mostrando 1-12 de 153 artigos, teses e dissertações.
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1. Fast detection of deletion breakpoints using quantitative PCR
Abstract The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridizat
Genet. Mol. Biol.. Publicado em: 16/06/2016
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2. Array comparative genomic hybridization (a-CGH): estado-da-arte e perspectiva
Rev. Bras. Ginecol. Obstet.. Publicado em: 2014-05
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3. Investigação molecular por sequenciamento do gene CBP em portadores da síndrome de Rubinstein-Taybi / Molecular investigation by sequencing of the CBP gene in patients with Rubinstein-Taybi syndrome
A Síndrome de Rubinstein-Taybi (RTSs) é uma doença rara de herança autossômica dominante, caracterizada por dismorfismos craniofaciais, polegares e háluces alargados, deficiência intelectual e de crescimento. RTSs tem sido associada com mutações no gene CREBBP (CBP) e mutações menos frequentes no gene EP300 que foram descritas em oito indivíduos.
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 16/03/2012
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4. MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization
Clinics. Publicado em: 2012-08
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5. Detecção de instabilidade genômica por hibridização genômica comparativa baseada em microarranjos (array CGH) em fetos dismórficos / Detection of genomic instability by microarray-based comparative genomic hybridization (array CGH) in dysmorphic fetuses
Introdução: Para uma parcela significativa de fetos com defeitos congênitos o diagnóstico sindrômico permanece indefinido, dificultando a abordagem perinatal, o estabelecimento de prognóstico e o aconselhamento genético. A incapacidade de detecção de pequenas instabilidades genômicas, atualmente apontadas como provável fator causal nestas condiç�
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 25/02/2010
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6. Genomic alterations detected by comparative genomic hybridization in ovarian endometriomas
Endometriosis is a complex and multifactorial disease. Chromosomal imbalance screening in endometriotic tissue can be used to detect hot-spot regions in the search for a possible genetic marker for endometriosis. The objective of the present study was to detect chromosomal imbalances by comparative genomic hybridization (CGH) in ectopic tissue samples from o
Brazilian Journal of Medical and Biological Research. Publicado em: 2010-08
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7. Avaliação in silico do transcriptoma do café : identificação de SNPs e inferência de mecanismos de regulação da expressão gênica / In silico analysis of the coffee transcriptome : identification of SNPs and inference of mechanisms of gene expression regulation
Coffee is one of the most important crops in the world, being worldwide consumed and having significant participation in under development economies. Coffea arabica and Coffea canephora are responsible for 70% and 30% of commercial production, respectively. Cytogenetic analysis established that C. arabica is an autogamous alotetraploid formed by a recent (1
Publicado em: 2010
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8. 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
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9. Hibridação genômica comparativa (CGH) em neoplasias gástricas de indivíduos do estado do Pará. / Comparative Genomic hybridization (CGH) in individuals from Northern Brazil with gastric adenocarcinoma.
Gastric adenocarcinoma is a serious public health concern, especially in the Northern Brazil. Gastric cancer can be subdivided into diffuse-type and intestinal-type. Genetic imbalances in diffuse-type gastric cancer remain largely unknown. In the present study, we analyzed 24 advanced diffuse-type gastric cancer samples from Northern Brazil subjects using hi
Publicado em: 2009
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10. Assessing the Molecular and Genetic Aspects of Squamous Cell Carcinoma of the Larynx / Avaliação Genético-Molecular do Carcinoma das Células Escamosas da Laringe
The larynx is a structure of the upper aerodigestive tract responsible for the production of sounds as well as protecting the lower airways and helping during the normal act of swallowing. Any pathology which affects the larynx can impose several challenges that disrupt its normal physiological function, and consequently and directly resulting in reduction o
Publicado em: 2009
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11. Identification of SHOX gene deletions: comparison of FISH technique, microsatellites analysis and MLPA / Identificação de deleções do gene SHOX: comparação das técnicas de FISH, análise de microssatélites e MLPA
The SHOX gene (short stature homeobox containing gene), expressed at high levels in osteogenic cells, is essential for bone development and growth process. SHOX haploinsufficiency is responsible for several phenotypes involving short stature, such as Turner syndrome, Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature. Deletions are responsible
Publicado em: 2009
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12. Estudos de citogenética e de filogenia molecular em roedores da tribo Akodontini / Cytogenetics and molecular phylogenetics in rodents of the tribe Akodontini
Traditionally comparative cytogenetic studies are based mainly on banding patterns. Nevertheless, when dealing with species with highly rearranged genomes, as in Akodon species, or with other highly divergent species, cytogenetic comparisons of banding patterns prove to be inadequate. Hence, comparative chromosome painting has become the method of choice for
Publicado em: 2009