Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder / Anne-Claude TABET in Molecular Autism, (March 2015)  

Public ISBD [article]  inMolecular Autism > (March 2015) . - p.1-14 Titre : Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Anne-Claude TABET, Auteur ; Alain VERLOES, Auteur ; Marion PILORGE, Auteur ; Elsa DELABY, Auteur ; Richard DELORME, Auteur ; Gudrun NYGREN, Auteur ; Françoise DEVILLARD, Auteur ; Marion GÉRARD, Auteur ; Sandrine PASSEMARD, Auteur ; Delphine HERON, Auteur ; Jean-Pierre SIFFROI, Auteur ; Aurelia JACQUETTE, Auteur ; Andrée DELAHAYE, Auteur ; Laurence PERRIN, Auteur ; Céline DUPONT, Auteur ; Azzedine ABOURA, Auteur ; Pierre BITOUN, Auteur ; Mary COLEMAN, Auteur ; Marion LEBOYER, Auteur ; Christopher GILLBERG, Auteur ; Brigitte BENZACKEN, Auteur ; Catalina BETANCUR, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment. En ligne : http://dx.doi.org/10.1186/s13229-015-0015-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder [Texte imprimé et/ou numérique] / Anne-Claude TABET, Auteur ; Alain VERLOES, Auteur ; Marion PILORGE, Auteur ; Elsa DELABY, Auteur ; Richard DELORME, Auteur ; Gudrun NYGREN, Auteur ; Françoise DEVILLARD, Auteur ; Marion GÉRARD, Auteur ; Sandrine PASSEMARD, Auteur ; Delphine HERON, Auteur ; Jean-Pierre SIFFROI, Auteur ; Aurelia JACQUETTE, Auteur ; Andrée DELAHAYE, Auteur ; Laurence PERRIN, Auteur ; Céline DUPONT, Auteur ; Azzedine ABOURA, Auteur ; Pierre BITOUN, Auteur ; Mary COLEMAN, Auteur ; Marion LEBOYER, Auteur ; Christopher GILLBERG, Auteur ; Brigitte BENZACKEN, Auteur ; Catalina BETANCUR, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (March 2015) . - p.1-14 Index. décimale : PER Périodiques Résumé : Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment. En ligne : http://dx.doi.org/10.1186/s13229-015-0015-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Dysphasie : aspects génétiques / Alain VERLOES

Public ISBD in Les dysphasies / Christophe-Loïc GERARD Titre : Dysphasie : aspects génétiques Type de document : Texte imprimé et/ou numérique Auteurs : Alain VERLOES, Auteur ; E. EXCOFFIER, Auteur Année de publication : 2003 Importance : p.17-22 Langues : Français (fre) Index. décimale : DYS-C DYS-C - Troubles des Apprentissages - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=551 in Les dysphasies / Christophe-Loïc GERARD Dysphasie : aspects génétiques [Texte imprimé et/ou numérique] / Alain VERLOES, Auteur ; E. EXCOFFIER, Auteur . - 2003 . - p.17-22. Langues : Français (fre) Index. décimale : DYS-C DYS-C - Troubles des Apprentissages - Généralités Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=551

Exemplaires

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Génétique et autisme : chromosomes et autisme / Alain VERLOES in Bulletin Scientifique de l'arapi (Le), 25 (Printemps 2010)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 25 (Printemps 2010) . - p.24-27 Titre : Génétique et autisme : chromosomes et autisme Type de document : Texte imprimé et/ou numérique Auteurs : Alain VERLOES, Auteur Année de publication : 2010 Article en page(s) : p.24-27 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=107 [article] Génétique et autisme : chromosomes et autisme [Texte imprimé et/ou numérique] / Alain VERLOES, Auteur . - 2010 . - p.24-27. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 25 (Printemps 2010) . - p.24-27 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=107

Des pommes, des poires… et des scoubidous ? / Alain VERLOES in Bulletin Scientifique de l'arapi (Le), 22 (Décembre 2008)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 22 (Décembre 2008) . - p.51-52 Titre : Des pommes, des poires… et des scoubidous ? Type de document : Texte imprimé et/ou numérique Auteurs : Alain VERLOES, Auteur Année de publication : 2008 Article en page(s) : p.51-52 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=657 [article] Des pommes, des poires… et des scoubidous ? [Texte imprimé et/ou numérique] / Alain VERLOES, Auteur . - 2008 . - p.51-52. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 22 (Décembre 2008) . - p.51-52 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=657

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome / Sylvie TORDJMAN in Molecular Autism, (August 2013)  

Public ISBD [article]  inMolecular Autism > (August 2013) Titre : Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Sylvie TORDJMAN, Auteur ; George M. ANDERSON, Auteur ; David COHEN, Auteur ; Solenn KERMARREC, Auteur ; Michèle CARLIER, Auteur ; Yvan TOUITOU, Auteur ; Pascale SAUGIER-VEBER, Auteur ; Celine LAGNEAUX, Auteur ; Claire CHEVREUIL, Auteur ; Alain VERLOES, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND:Deletion of the Williams-Beuren syndrome (WBS) critical region (WBSCR), at 7q11.23, causes a developmental disorder commonly characterized by hypersociability and excessive talkativeness and often considered the opposite behavioral phenotype to autism. Duplication of the WBSCR leads to severe delay in expressive language. Gene-dosage effects on language development at 7q11.23 have been hypothesized.METHODS:Molecular characterization of the WBSCR was performed by fluorescence in situ hybridization and high-resolution single-nucleotide polymorphism array in two individuals with severe autism enrolled in a genetic study of autism who showed typical WBS facial dysmorphism on systematic clinical genetic examination. The serotonin transporter promoter polymorphism (5-HTTLPR, locus SLC6A4) was genotyped. Platelet serotonin levels and urinary 6-sulfatoxymelatonin excretion were measured. Behavioral and cognitive phenotypes were examined.RESULTS:The two patients had common WBSCR deletions between proximal and medial low copy repeat clusters, met diagnostic criteria for autism and displayed severe impairment in communication, including a total absence of expressive speech. Both patients carried the 5-HTTLPR ss genotype and exhibited platelet hyperserotonemia and low melatonin production.CONCLUSIONS:Our observations indicate that behaviors and neurochemical phenotypes typically associated with autism can occur in patients with common WBSCR deletions. The results raise intriguing questions about phenotypic heterogeneity in WBS and regarding genetic and/or environmental factors interacting with specific genes at 7q11.23 sensitive to dosage alterations that can influence the development of social communication skills. Thus, the influence of WBSCR genes on social communication expression might be dramatically modified by other genes, such as 5-HTTLPR, known to influence the severity of social communication impairments in autism, or by environmental factors, such as hyperserotonemia, given that hyperserotonemia is found in WBS associated with autism but not in WBS without autism. In this regard, WBS provides a potentially fruitful model with which to develop integrated genetic, cognitive, behavioral and neurochemical approaches to study genotype-phenotype correlations, possible gene-environment interactions and genetic background effects. The results underscore the importance of considering careful clinical and molecular genetic examination of individuals diagnosed with autism. En ligne : http://dx.doi.org/10.1186/2040-2392-4-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome [Texte imprimé et/ou numérique] / Sylvie TORDJMAN, Auteur ; George M. ANDERSON, Auteur ; David COHEN, Auteur ; Solenn KERMARREC, Auteur ; Michèle CARLIER, Auteur ; Yvan TOUITOU, Auteur ; Pascale SAUGIER-VEBER, Auteur ; Celine LAGNEAUX, Auteur ; Claire CHEVREUIL, Auteur ; Alain VERLOES, Auteur. Langues : Anglais (eng) in Molecular Autism > (August 2013) Index. décimale : PER Périodiques Résumé : BACKGROUND:Deletion of the Williams-Beuren syndrome (WBS) critical region (WBSCR), at 7q11.23, causes a developmental disorder commonly characterized by hypersociability and excessive talkativeness and often considered the opposite behavioral phenotype to autism. Duplication of the WBSCR leads to severe delay in expressive language. Gene-dosage effects on language development at 7q11.23 have been hypothesized.METHODS:Molecular characterization of the WBSCR was performed by fluorescence in situ hybridization and high-resolution single-nucleotide polymorphism array in two individuals with severe autism enrolled in a genetic study of autism who showed typical WBS facial dysmorphism on systematic clinical genetic examination. The serotonin transporter promoter polymorphism (5-HTTLPR, locus SLC6A4) was genotyped. Platelet serotonin levels and urinary 6-sulfatoxymelatonin excretion were measured. Behavioral and cognitive phenotypes were examined.RESULTS:The two patients had common WBSCR deletions between proximal and medial low copy repeat clusters, met diagnostic criteria for autism and displayed severe impairment in communication, including a total absence of expressive speech. Both patients carried the 5-HTTLPR ss genotype and exhibited platelet hyperserotonemia and low melatonin production.CONCLUSIONS:Our observations indicate that behaviors and neurochemical phenotypes typically associated with autism can occur in patients with common WBSCR deletions. The results raise intriguing questions about phenotypic heterogeneity in WBS and regarding genetic and/or environmental factors interacting with specific genes at 7q11.23 sensitive to dosage alterations that can influence the development of social communication skills. Thus, the influence of WBSCR genes on social communication expression might be dramatically modified by other genes, such as 5-HTTLPR, known to influence the severity of social communication impairments in autism, or by environmental factors, such as hyperserotonemia, given that hyperserotonemia is found in WBS associated with autism but not in WBS without autism. In this regard, WBS provides a potentially fruitful model with which to develop integrated genetic, cognitive, behavioral and neurochemical approaches to study genotype-phenotype correlations, possible gene-environment interactions and genetic background effects. The results underscore the importance of considering careful clinical and molecular genetic examination of individuals diagnosed with autism. En ligne : http://dx.doi.org/10.1186/2040-2392-4-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

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