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Resumen
Craniosynostosis results from premature ossification of
one or more cranial sutures and leads to alterations in
the shape of the skull and/or premature closure of cranial
fontanels, causing impairment of brain perfusion,
vision and hearing, airway obstruction, learning difficulties,
severe cosmetic deformities and high intracranial
pressure [1]. To date, the genetic mechanisms leading to
sagittal craniosynostosis are poorly known. The
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dc.contributor.author | Faria, Ágatha Cristhina | |
dc.contributor.author | Atique, Ferraz de Rodrigo Toledo | |
dc.contributor.author | Rebouças, Maria Regina Galvêas Oliveira | |
dc.contributor.author | Cavagnaro, Pablo | |
dc.contributor.author | Rabbi-Bortolini, Eliete | |
dc.contributor.author | Passos-Bueno, Maria Rita | |
dc.contributor.author | Errera, Flávia Imbroisi Valle | |
dc.date.accessioned | 2018-08-21T14:11:14Z | |
dc.date.available | 2018-08-21T14:11:14Z | |
dc.date.issued | 2014 | |
dc.identifier.issn | 1753-6561 | |
dc.identifier.other | https://doi.org/10.1186/1753-6561-8-S4-P1 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12123/3133 | |
dc.identifier.uri | https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P1 | |
dc.description | 5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013 | es_AR |
dc.description.abstract | Craniosynostosis results from premature ossification of one or more cranial sutures and leads to alterations in the shape of the skull and/or premature closure of cranial fontanels, causing impairment of brain perfusion, vision and hearing, airway obstruction, learning difficulties, severe cosmetic deformities and high intracranial pressure [1]. To date, the genetic mechanisms leading to sagittal craniosynostosis are poorly known. The identification of candidate genes underlying this condition may contribute to elucidation of the etiology of this common malformation. The aim of this study was to associate genotype-phenotype of a patient with a deletion in the long arm of chromosome 10 and craniosynostosis. | eng |
dc.format | application/pdf | eng |
dc.language.iso | eng | |
dc.publisher | BioMed Central | eng |
dc.rights | info:eu-repo/semantics/openAccess | eng |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | |
dc.source | BMC proceedings 8 (Suppl 4) : 1. (2014) | eng |
dc.subject | Hibridación | es_AR |
dc.subject | Cromosomas | es_AR |
dc.subject | Genes Indicadores | es_AR |
dc.subject | Reporter Genes | eng |
dc.subject | Chromosomes | eng |
dc.subject | Hybridization | eng |
dc.subject.other | Cromosoma 10 | es_AR |
dc.subject.other | Craneosinostosis Sagital | es_AR |
dc.subject.other | Genomic Hybridization | eng |
dc.title | Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features | eng |
dc.type | info:ar-repo/semantics/póster | es_AR |
dc.type | info:eu-repo/semantics/conferenceObject | eng |
dc.type | info:eu-repo/semantics/publishedVersion | eng |
dc.rights.license | Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) | |
dc.description.origen | EEA La Consulta | es_AR |
dc.description.fil | Fil: Faria, Ágatha Cristhina. Universidade Federal do Espírito Santo; Brasil | es_AR |
dc.description.fil | Fil: Atique, Ferraz de Rodrigo Toledo. Universidade de São Paulo. Instituto de Biociências; Brasil | es_AR |
dc.description.fil | Fil: Rebouças, Maria Regina Galvêas Oliveira. Hospital Infantil Nossa Senhora da Glória (HINSG); Brasil | es_AR |
dc.description.fil | Fil: Cavagnaro, Pablo Federico. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria La Consulta; Argentina. Universidad Nacional de Cuyo. Facultad de Ciencias Agrarias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza; Argentina | es_AR |
dc.description.fil | Fil: Rabbi-Bortolini, Eliete. Associação Educacional de Vitória (AEV/FAESA). Brasil | es_AR |
dc.description.fil | Fil: Passos-Bueno, Maria Rita. Universidade de São Paulo. Instituto de Biociências; Brasil | es_AR |
dc.description.fil | Fil: Errera, Flávia Imbroisi Valle. Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória. Centro de Pesquisa (EMESCAM); Brasil | es_AR |
dc.subtype | ponencia |
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