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 cranio...

Autores
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
Año de publicación
2014
Idioma
inglés
Tipo de recurso
documento de conferencia
Estado
versión publicada
Descripción
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
Fuente
BMC proceedings 8 (Suppl 4) : 1. (2014)
Materia
Hibridación
Cromosomas
Genes Indicadores
Reporter Genes
Chromosomes
Hybridization
Cromosoma 10
Craneosinostosis Sagital
Genomic Hybridization
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by-nc-sa/4.0/
Repositorio
INTA Digital (INTA)
Institución
Instituto Nacional de Tecnología Agropecuaria
OAI Identificador
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spelling 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 featuresFaria, Ágatha CristhinaAtique, Ferraz de Rodrigo ToledoRebouças, Maria Regina Galvêas OliveiraCavagnaro, PabloRabbi-Bortolini, ElietePassos-Bueno, Maria RitaErrera, Flávia Imbroisi ValleHibridaciónCromosomasGenes IndicadoresReporter GenesChromosomesHybridizationCromosoma 10Craneosinostosis SagitalGenomic Hybridization5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013Craniosynostosis 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 ConsultaFil: Faria, Ágatha Cristhina. Universidade Federal do Espírito Santo; BrasilFil: Atique, Ferraz de Rodrigo Toledo. Universidade de São Paulo. Instituto de Biociências; BrasilFil: Rebouças, Maria Regina Galvêas Oliveira. Hospital Infantil Nossa Senhora da Glória (HINSG); BrasilFil: 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; ArgentinaFil: Rabbi-Bortolini, Eliete. Associação Educacional de Vitória (AEV/FAESA). BrasilFil: Passos-Bueno, Maria Rita. Universidade de São Paulo. Instituto de Biociências; BrasilFil: Errera, Flávia Imbroisi Valle. Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória. Centro de Pesquisa (EMESCAM); BrasilBioMed Central2018-08-21T14:11:14Z2018-08-21T14:11:14Z2014info:eu-repo/semantics/conferenceObjectinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6670info:ar-repo/semantics/posterinfo:eu-repo/semantics/conferencePosterapplication/pdfhttp://hdl.handle.net/20.500.12123/3133https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P11753-6561https://doi.org/10.1186/1753-6561-8-S4-P1BMC proceedings 8 (Suppl 4) : 1. (2014)reponame:INTA Digital (INTA)instname:Instituto Nacional de Tecnología Agropecuariaenginfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)2025-10-23T11:16:37Zoai:localhost:20.500.12123/3133instacron:INTAInstitucionalhttp://repositorio.inta.gob.ar/Organismo científico-tecnológicoNo correspondehttp://repositorio.inta.gob.ar/oai/requesttripaldi.nicolas@inta.gob.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:l2025-10-23 11:16:38.397INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuariafalse
dc.title.none.fl_str_mv 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
spellingShingle 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
Hibridación
Cromosomas
Genes Indicadores
Reporter Genes
Chromosomes
Hybridization
Cromosoma 10
Craneosinostosis Sagital
Genomic Hybridization
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_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_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
dc.creator.none.fl_str_mv 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 Faria, Ágatha Cristhina
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_role author
author2 Atique, Ferraz de Rodrigo Toledo
Rebouças, Maria Regina Galvêas Oliveira
Cavagnaro, Pablo
Rabbi-Bortolini, Eliete
Passos-Bueno, Maria Rita
Errera, Flávia Imbroisi Valle
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Hibridación
Cromosomas
Genes Indicadores
Reporter Genes
Chromosomes
Hybridization
Cromosoma 10
Craneosinostosis Sagital
Genomic Hybridization
topic Hibridación
Cromosomas
Genes Indicadores
Reporter Genes
Chromosomes
Hybridization
Cromosoma 10
Craneosinostosis Sagital
Genomic Hybridization
dc.description.none.fl_txt_mv 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
description 5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013
publishDate 2014
dc.date.none.fl_str_mv 2014
2018-08-21T14:11:14Z
2018-08-21T14:11:14Z
dc.type.none.fl_str_mv info:eu-repo/semantics/conferenceObject
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6670
info:ar-repo/semantics/poster
info:eu-repo/semantics/conferencePoster
format conferenceObject
status_str publishedVersion
dc.identifier.none.fl_str_mv 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
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
identifier_str_mv 1753-6561
dc.language.none.fl_str_mv eng
language eng
dc.rights.none.fl_str_mv 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)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv BMC proceedings 8 (Suppl 4) : 1. (2014)
reponame:INTA Digital (INTA)
instname:Instituto Nacional de Tecnología Agropecuaria
reponame_str INTA Digital (INTA)
collection INTA Digital (INTA)
instname_str Instituto Nacional de Tecnología Agropecuaria
repository.name.fl_str_mv INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuaria
repository.mail.fl_str_mv tripaldi.nicolas@inta.gob.ar
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score 12.982451

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