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Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? / Susan G. MCGREW in Journal of Autism and Developmental Disorders, 42-8 (August 2012)
[article]
Titre : Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? Type de document : Texte imprimé et/ou numérique Auteurs : Susan G. MCGREW, Auteur ; Brittany R. PETERS, Auteur ; Julie CRITTENDON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.1582-1591 Langues : Anglais (eng) Mots-clés : Genetic testing guidelines Chromosomal microarray Karyotype Dysmorphology Index. décimale : PER Périodiques Résumé : Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1398-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178
in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591[article] Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? [Texte imprimé et/ou numérique] / Susan G. MCGREW, Auteur ; Brittany R. PETERS, Auteur ; Julie CRITTENDON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.1582-1591.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-8 (August 2012) . - p.1582-1591
Mots-clés : Genetic testing guidelines Chromosomal microarray Karyotype Dysmorphology Index. décimale : PER Périodiques Résumé : Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1398-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population / Watfa AL-MAMARI in Journal of Autism and Developmental Disorders, 45-8 (August 2015)
[article]
Titre : Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population Type de document : Texte imprimé et/ou numérique Auteurs : Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur Année de publication : 2015 Article en page(s) : p.2323-2328 Langues : Anglais (eng) Mots-clés : Autism Autism spectrum disorders Chromosomal microarray Array-CGH Diagnostic yield Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263
in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328[article] Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population [Texte imprimé et/ou numérique] / Watfa AL-MAMARI, Auteur ; Abeer AL-SAEGH, Auteur ; Adila AL-KINDY, Auteur ; Zandre BRUWER, Auteur ; Fathiya AL-MURSHEDI, Auteur ; Khalid AL-THIHLI, Auteur . - 2015 . - p.2323-2328.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-8 (August 2015) . - p.2323-2328
Mots-clés : Autism Autism spectrum disorders Chromosomal microarray Array-CGH Diagnostic yield Consanguinity Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients referred to the Genetic and Developmental Medicine clinic in Sultan Qaboos University in Oman for autism spectrum disorders in a highly consanguineous population. Copy number variants were seen in 27 % of our studied cohort of patients and it was strongly associated with dysmorphic features and congenital anomalies. En ligne : http://dx.doi.org/10.1007/s10803-015-2394-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder / A. RUTZ in Journal of Autism and Developmental Disorders, 49-2 (February 2019)
[article]
Titre : Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. RUTZ, Auteur ; K. M. DENT, Auteur ; L. D. BOTTO, Auteur ; P. C. YOUNG, Auteur ; Paul S. CARBONE, Auteur Article en page(s) : p.794-808 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Chromosomal microarray Genetics Primary care provider Index. décimale : PER Périodiques Résumé : Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-018-3738-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=382
in Journal of Autism and Developmental Disorders > 49-2 (February 2019) . - p.794-808[article] Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / A. RUTZ, Auteur ; K. M. DENT, Auteur ; L. D. BOTTO, Auteur ; P. C. YOUNG, Auteur ; Paul S. CARBONE, Auteur . - p.794-808.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-2 (February 2019) . - p.794-808
Mots-clés : Autism spectrum disorder Chromosomal microarray Genetics Primary care provider Index. décimale : PER Périodiques Résumé : Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing. En ligne : http://dx.doi.org/10.1007/s10803-018-3738-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=382