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	Provedor de dados Genet. Mol. Biol. (2) Autor Fernández,Luis (1) Fonseca,Patricia (1) García-Miñaur,Sixto (1) García-Santiago,Fé (1) Lapunzina,Pablo (1) Lupski,James R. (1) Mansilla,Elena (1) Martínez-Glez,Víctor (1) Mena,Rocío (1) Mergener,Rafaella (1) Mori,María Ángeles (1) Nevado,Julián (1) Palomares-Bralo,María (1) Riegel,Mariluce (1) Santos,Fernando (1) Souza,Karen Regina (1) Torres,María Luisa de (1) Vallespín,Elena (1) Walz,Katherina (1) Mais... Palavra-chave Microdeletion (2) Microduplication (2) Chromosome rearrangement (1) Contiguous gene syndromes (1) Genomic disorders (1) Novel deletions (1) Novel duplications (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 New microdeletion and microduplication syndromes: a comprehensive review Genet. Mol. Biol. Nevado,Julián; Mergener,Rafaella; Palomares-Bralo,María; Souza,Karen Regina; Vallespín,Elena; Mena,Rocío; Martínez-Glez,Víctor; Mori,María Ángeles; Santos,Fernando; García-Miñaur,Sixto; García-Santiago,Fé; Mansilla,Elena; Fernández,Luis; Torres,María Luisa de; Riegel,Mariluce; Lapunzina,Pablo. Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help... Tipo: Info:eu-repo/semantics/article Palavras-chave: Microdeletion; Microduplication; Chromosome rearrangement; Novel deletions; Novel duplications. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007 Registros recuperados: 2 Primeira ... 1 ... Última

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