Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study / Chloe Alexa MCGHEE in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) Titre : Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study Type de document : texte imprimé Auteurs : Chloe Alexa MCGHEE, Auteur ; Julia R. PLANK, Auteur ; Luca PANNONE, Auteur ; Odeya RUSSO, Auteur ; Naomi FUHRMANN, Auteur ; Aurora RUGGERI, Auteur ; Francesca Clementina RADIO, Auteur ; Simone MARTINELLI, Auteur ; Marco TARTAGLIA, Auteur ; Tamar GREEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly characterized. En ligne : https://doi.org/10.1186/s13229-025-00681-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study [texte imprimé] / Chloe Alexa MCGHEE, Auteur ; Julia R. PLANK, Auteur ; Luca PANNONE, Auteur ; Odeya RUSSO, Auteur ; Naomi FUHRMANN, Auteur ; Aurora RUGGERI, Auteur ; Francesca Clementina RADIO, Auteur ; Simone MARTINELLI, Auteur ; Marco TARTAGLIA, Auteur ; Tamar GREEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 16 (2025) Index. décimale : PER Périodiques Résumé : Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly characterized. En ligne : https://doi.org/10.1186/s13229-025-00681-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study / Jennifer L. BRUNO in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) Titre : Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study Type de document : texte imprimé Auteurs : Jennifer L. BRUNO, Auteur ; Julia R. PLANK, Auteur ; Samantha LEDER, Auteur ; Evelyn M. R. LAKE, Auteur ; Emily S. FINN, Auteur ; Tamar GREEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Despite high rates of autism spectrum disorder (ASD), understanding of pathophysiology is limited. The RAS-mitogen-activated protein kinase (RAS-MAPK) pathway plays a crucial role in ASD and is altered in children with Noonan syndrome (NS). Children with NS offer a unique model to disentangle genetic and neurological underpinnings of ASD. En ligne : https://doi.org/10.1186/s13229-025-00686-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study [texte imprimé] / Jennifer L. BRUNO, Auteur ; Julia R. PLANK, Auteur ; Samantha LEDER, Auteur ; Evelyn M. R. LAKE, Auteur ; Emily S. FINN, Auteur ; Tamar GREEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 16 (2025) Index. décimale : PER Périodiques Résumé : Despite high rates of autism spectrum disorder (ASD), understanding of pathophysiology is limited. The RAS-mitogen-activated protein kinase (RAS-MAPK) pathway plays a crucial role in ASD and is altered in children with Noonan syndrome (NS). Children with NS offer a unique model to disentangle genetic and neurological underpinnings of ASD. En ligne : https://doi.org/10.1186/s13229-025-00686-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

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