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
5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013
| Autores principales: | , , , , , , |
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| Formato: | info:ar-repo/semantics/póster |
| Lenguaje: | Inglés |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | http://hdl.handle.net/20.500.12123/3133 https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P1 https://doi.org/10.1186/1753-6561-8-S4-P1 |
| _version_ | 1855035088983556096 |
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| author | Faria, Ágatha Cristhina Atique, Ferraz de Rodrigo Toledo Rebouças, Maria Regina Galvêas Oliveira Cavagnaro, Pablo Rabbi-Bortolini, Eliete Passos-Bueno, Maria Rita Errera, Flávia Imbroisi Valle |
| author_browse | Atique, Ferraz de Rodrigo Toledo Cavagnaro, Pablo Errera, Flávia Imbroisi Valle Faria, Ágatha Cristhina Passos-Bueno, Maria Rita Rabbi-Bortolini, Eliete Rebouças, Maria Regina Galvêas Oliveira |
| author_facet | Faria, Ágatha Cristhina Atique, Ferraz de Rodrigo Toledo Rebouças, Maria Regina Galvêas Oliveira Cavagnaro, Pablo Rabbi-Bortolini, Eliete Passos-Bueno, Maria Rita Errera, Flávia Imbroisi Valle |
| author_sort | Faria, Ágatha Cristhina |
| collection | INTA Digital |
| description | 5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013 |
| format | info:ar-repo/semantics/póster |
| id | INTA3133 |
| institution | Instituto Nacional de Tecnología Agropecuaria (INTA -Argentina) |
| language | Inglés |
| publishDate | 2018 |
| publishDateRange | 2018 |
| publishDateSort | 2018 |
| publisher | BioMed Central |
| publisherStr | BioMed Central |
| record_format | dspace |
| spelling | INTA31332018-08-21T14:19:11Z 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 Faria, Ágatha Cristhina Atique, Ferraz de Rodrigo Toledo Rebouças, Maria Regina Galvêas Oliveira Cavagnaro, Pablo Rabbi-Bortolini, Eliete Passos-Bueno, Maria Rita Errera, Flávia Imbroisi Valle Hibridación Cromosomas Genes Indicadores Reporter Genes Chromosomes Hybridization Cromosoma 10 Craneosinostosis Sagital Genomic Hybridization 5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013 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. EEA La Consulta Fil: Faria, Ágatha Cristhina. Universidade Federal do Espírito Santo; Brasil Fil: Atique, Ferraz de Rodrigo Toledo. Universidade de São Paulo. Instituto de Biociências; Brasil Fil: Rebouças, Maria Regina Galvêas Oliveira. Hospital Infantil Nossa Senhora da Glória (HINSG); Brasil 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 Fil: Rabbi-Bortolini, Eliete. Associação Educacional de Vitória (AEV/FAESA). Brasil Fil: Passos-Bueno, Maria Rita. Universidade de São Paulo. Instituto de Biociências; Brasil Fil: Errera, Flávia Imbroisi Valle. Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória. Centro de Pesquisa (EMESCAM); Brasil 2018-08-21T14:11:14Z 2018-08-21T14:11:14Z 2014 info:ar-repo/semantics/póster info:eu-repo/semantics/conferenceObject info:eu-repo/semantics/publishedVersion http://hdl.handle.net/20.500.12123/3133 https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P1 1753-6561 https://doi.org/10.1186/1753-6561-8-S4-P1 eng info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by-nc-sa/4.0/ Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) application/pdf BioMed Central BMC proceedings 8 (Suppl 4) : 1. (2014) |
| spellingShingle | Hibridación Cromosomas Genes Indicadores Reporter Genes Chromosomes Hybridization Cromosoma 10 Craneosinostosis Sagital Genomic Hybridization Faria, Ágatha Cristhina Atique, Ferraz de Rodrigo Toledo Rebouças, Maria Regina Galvêas Oliveira Cavagnaro, Pablo Rabbi-Bortolini, Eliete Passos-Bueno, Maria Rita Errera, Flávia Imbroisi Valle 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 |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Hibridación Cromosomas Genes Indicadores Reporter Genes Chromosomes Hybridization Cromosoma 10 Craneosinostosis Sagital Genomic Hybridization |
| url | http://hdl.handle.net/20.500.12123/3133 https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P1 https://doi.org/10.1186/1753-6561-8-S4-P1 |
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