Autism traits in the RASopathies. - Wikidata - awgldk - TriplyDB

Autism traits in the RASopathies.

Autism traits in the RASopathies.

http://www.wikidata.org/entity/Q34503769

about

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Transient inhibition of the ERK pathway prevents cerebellar developmental defects and improves long-term motor functions in murine models of neurofibromatosis type 1.Dentate Gyrus Development Requires ERK Activity to Maintain Progenitor Population and MAPK Pathway Feedback Regulation.Dysregulation of astrocyte extracellular signaling in Costello syndrome.Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.Pleiotropic Mechanisms Indicated for Sex Differences in Autism Resting state functional MRI reveals abnormal network connectivity in neurofibromatosis 1.Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome Distribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I.A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I.Pragmatic language impairment in children with Noonan syndrome.Malformation syndromes associated with disorders of sex development.Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions.Improving the Dermatologic Care of Individuals with Autism: A Review of Relevant Issues and a Perspective.Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling.Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).Initial analysis of peripheral lymphocytic extracellular signal related kinase activation in autism.Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning.Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.Abnormalities in Interactions of Rho GTPases with Scaffolding Proteins Contribute to Neurodevelopmental Disorders.Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma.Impaired engagement of the ventral attention system in neurofibromatosis type 1.Autism spectrum disorder profile in neurofibromatosis type I.Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1.Behavioral phenotype in Costello syndrome with atypical mutation: a case report.Neurobehavioural vulnerability and autistic traits in RASopathies.Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.RASopathies are associated with a distinct personality profile.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.Synaptic Disorders

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Autism traits in the RASopathies.

http://www.wikidata.org/entity/Q34503769

description

2013 nî lūn-bûn

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2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2013 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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type

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Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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Autism traits in the RASopathies.

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JMEDGENET-2013-101951

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Journal of Medical Genetics

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Autism traits in the RASopathies

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Brigid Adviento

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Carrie E Bearden

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Elysa J Marco

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Felicia Widjaja

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Guillaume Desachy

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Iris L Corbin

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Katherine A Rauen

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Nicole Enrique

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Robert L Hendren

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Susan Risi

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Epidemiology of Pervasive Developmental Disorders

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Functional impact of global rare copy number variation in autism spectrum disorders

The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence

A restricted spectrum of NRAS mutations causes Noonan syndrome

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

Intergenerational transmission of subthreshold autistic traits in the general population

Patterns and rates of exonic de novo mutations in autism spectrum disorders

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