Copy Number Variation Cnvs
Mostrando 1-7 de 7 artigos, teses e dissertações.
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1. Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in partic
Genet. Mol. Biol.. Publicado em: 2013
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2. CNViewer : aplicativo baseado em navegador web para análise de variações de número de cópias (CNV) do genoma humano / Cnviewer:Browser-Based AppicationFor The Analysis Of Dna Copy Number Variation In The Human Genome
O uso de ferramentas de análise e visualização de dados é essencial para a pesquisa de CNVs, porém nem sempre está ao alcance de todo o meio científico devido a restrições de acesso ou por requerer conhecimento avançado de informática. Portanto o desenvolvimento de interfaces amigáveis e acessíveis é essencial para a pesquisa. Esta dissertaçã
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 12/07/2010
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3. Clinical, genetic and molecular study of Rokitansky-Mayer-Küster-Hauser syndrome and related conditions / Estudo genético-clínico e molecular da síndrome de Rokitansky-Mayer-Küster-Hauser e condições afins
Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, comprising utero-vaginal atresia in otherwise phenotypically normal women with a normal karyotype (46,XX), has an incidence of about 1/5,000 among newborn girls. Anomalies of the genital tract range from upper vaginal atresia to total Müllerian agenesis (congenital absence of the Fallopian tubes,
Publicado em: 2008
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4. Copy number variations and cancer
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in suscept
BioMed Central.
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5. Copy number variation influences gene expression and metabolic traits in mice
Copy number variants (CNVs) are genomic segments which are duplicated or deleted among different individuals. CNVs have been implicated in both Mendelian and complex traits, including immune and behavioral disorders, but the study of the mechanisms by which CNVs influence gene expression and clinical phenotypes in humans is complicated by the limited access
Oxford University Press.
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6. Psychosis Genetics: Modeling the Relationship Between Schizophrenia, Bipolar Disorder, and Mixed (or “Schizoaffective”) Psychoses
As a result of improving technologies and greatly increased sample sizes, the last 2 years has seen unprecedented advances in identification of specific genetic risk factors for psychiatric phenotypes. Strong genetic associations have been reported at common polymorphisms within ANK3 and CACNA1C in bipolar disorder and ZNF804A in schizophrenia and a relative
Oxford University Press.
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7. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
Psychiatric disorders such as schizophrenia are commonly accompanied by cognitive impairments that are treatment resistant and crucial to functional outcome. There has been great interest in studying cognitive measures as endophenotypes for psychiatric disorders, with the hope that their genetic basis will be clearer. To investigate this, we performed a geno
Oxford University Press.