Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders / Marta CODINA-SOLÀ in Molecular Autism, (April 2015)  

Public ISBD [article]  inMolecular Autism > (April 2015) . - p.1-16 Titre : Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Marta CODINA-SOLÀ, Auteur ; Benjamín RODRÍGUEZ-SANTIAGO, Auteur ; Aïda HOMS, Auteur ; Javier SANTOYO, Auteur ; Maria RIGAU, Auteur ; Gemma AZNAR-LAÍN, Auteur ; Miguel DEL CAMPO, Auteur ; Blanca GENER, Auteur ; Elisabeth GABAU, Auteur ; María Pilar BOTELLA, Auteur ; Armand GUTIÉRREZ-ARUMÍ, Auteur ; Guillermo ANTIÑOLO, Auteur ; Luis Alberto PÉREZ-JURADO, Auteur ; Ivon CUSCÓ, Auteur Année de publication : 2015 Article en page(s) : p.1-16 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited mutations or chromosomal rearrangements as well as double or multiple hits. En ligne : http://dx.doi.org/10.1186/s13229-015-0017-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders [Texte imprimé et/ou numérique] / Marta CODINA-SOLÀ, Auteur ; Benjamín RODRÍGUEZ-SANTIAGO, Auteur ; Aïda HOMS, Auteur ; Javier SANTOYO, Auteur ; Maria RIGAU, Auteur ; Gemma AZNAR-LAÍN, Auteur ; Miguel DEL CAMPO, Auteur ; Blanca GENER, Auteur ; Elisabeth GABAU, Auteur ; María Pilar BOTELLA, Auteur ; Armand GUTIÉRREZ-ARUMÍ, Auteur ; Guillermo ANTIÑOLO, Auteur ; Luis Alberto PÉREZ-JURADO, Auteur ; Ivon CUSCÓ, Auteur . - 2015 . - p.1-16. Langues : Anglais (eng) in Molecular Autism > (April 2015) . - p.1-16 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited mutations or chromosomal rearrangements as well as double or multiple hits. En ligne : http://dx.doi.org/10.1186/s13229-015-0017-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Provision of Genetic Services for Autism and its Impact on Spanish Families / Marta CODINA-SOLÀ in Journal of Autism and Developmental Disorders, 47-10 (October 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-10 (October 2017) . - p.2947-2956 Titre : Provision of Genetic Services for Autism and its Impact on Spanish Families Type de document : Texte imprimé et/ou numérique Auteurs : Marta CODINA-SOLÀ, Auteur ; Luis A. PÉREZ-JURADO, Auteur ; Ivon CUSCÓ, Auteur ; Clara SERRA-JUHÉ, Auteur Article en page(s) : p.2947-2956 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Genetic counseling  Genetic services  Genetic diagnosis  Informed decisions  Family planning Index. décimale : PER Périodiques Résumé : Although a genetic evaluation can identify the etiology in 15–30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information. En ligne : https://doi.org/10.1007/s10803-017-3203-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=319 [article] Provision of Genetic Services for Autism and its Impact on Spanish Families [Texte imprimé et/ou numérique] / Marta CODINA-SOLÀ, Auteur ; Luis A. PÉREZ-JURADO, Auteur ; Ivon CUSCÓ, Auteur ; Clara SERRA-JUHÉ, Auteur . - p.2947-2956. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-10 (October 2017) . - p.2947-2956 Mots-clés : Autism spectrum disorders  Genetic counseling  Genetic services  Genetic diagnosis  Informed decisions  Family planning Index. décimale : PER Périodiques Résumé : Although a genetic evaluation can identify the etiology in 15–30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information. En ligne : https://doi.org/10.1007/s10803-017-3203-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=319

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