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	Provedor de dados Genet. Mol. Biol. (2) Autor Fonseca,Patricia (1) Lupski,James R. (1) Riegel,Mariluce (1) Walz,Katherina (1) Palavra-chave Genomic disorders (2) Array-CGH (1) Contiguous gene syndromes (1) Copy number variation (1) FISH (1) Microdeletion (1) Microduplication (1) Molecular cytogenetics (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2014 (1) 2004 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Animal models for human contiguous gene syndromes and other genomic disorders Genet. Mol. Biol. Walz,Katherina; Fonseca,Patricia; Lupski,James R.. Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage. The chromosomal rearrangements are usually relatively small and often difficult to detect cytogenetically. In a subset of such conditions the rearrangements comprise multiple unrelated contiguous genes that are physically linked and thus have been referred to as contiguous gene syndromes (CGS). In general, each syndrome presents a complex clinical phenotype that has been attributed generally to dosage sensitive gene(s) present in the responsible chromosomal interval. A common mechanism for CGS resulting from interstitial deletion/duplication has recently been elucidated. The DNA... Tipo: Info:eu-repo/semantics/article Palavras-chave: Genomic disorders; Contiguous gene syndromes; Microdeletion; Microduplication. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300001 Human molecular cytogenetics: from cells to nucleotides Genet. Mol. Biol. Riegel,Mariluce. The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Molecular cytogenetics; FISH; Array-CGH; Copy number variation; Genomic disorders. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006 Registros recuperados: 2 Primeira ... 1 ... Última

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