标题
Autism traits in the RASopathies
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 51, Issue 1, Pages 10-20
出版商
BMJ
发表日期
2013-10-08
DOI
10.1136/jmedgenet-2013-101951
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Autism spectrum disorders: The quest for genetic syndromes
- (2013) Dimitrios I. Zafeiriou et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Autism spectrum disorder in the genetics clinic: a review
- (2013) MT Carter et al. CLINICAL GENETICS
- Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
- (2013) Andres Moreno-De-Luca et al. LANCET NEUROLOGY
- Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
- (2013) Elaine T. Lim et al. NEURON
- Rare Inherited Variation in Autism: Beginning to See the Forest and a Few Trees
- (2013) Jason L. Stein et al. NEURON
- Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study
- (2012) SHRUTI GARG et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1
- (2012) KARIN S WALSH et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence
- (2012) ANNUKKA LEHTONEN et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Are Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder Different Manifestations of One Overarching Disorder? Cognitive and Symptom Evidence From a Clinical and Population-Based Sample
- (2012) Jolanda M.J. van der Meer et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of Umeclidinium and Vilanterol Alone and in Combination: A Randomized Crossover Trial
- (2012) Dennis L. Kelleher et al. PLoS One
- Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review
- (2011) Marni E. Axelrad et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
- (2011) Judith E. Allanson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Combining information from multiple sources for the diagnosis of autism spectrum disorders for toddlers and young preschoolers from 12 to 47 months of age
- (2011) So Hyun Kim et al. JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities
- (2010) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Sibling Recurrence and the Genetic Epidemiology of Autism
- (2010) John N. Constantino et al. AMERICAN JOURNAL OF PSYCHIATRY
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
- (2009) William E Tidyman et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Neuropsychological and Behavioral Aspects of Noonan Syndrome
- (2009) Ellen Wingbermuehle et al. HORMONE RESEARCH
- The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders
- (2009) Pat Levitt et al. JOURNAL OF CLINICAL INVESTIGATION
- Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- (2009) Viviana Cordeddu et al. NATURE GENETICS
- A restricted spectrum of NRAS mutations causes Noonan syndrome
- (2009) Ion C Cirstea et al. NATURE GENETICS
- Epidemiology of Pervasive Developmental Disorders
- (2009) Eric Fombonne PEDIATRIC RESEARCH
- Assessing autistic traits: cross-cultural validation of the social responsiveness scale (SRS)
- (2008) Sven Bölte et al. Autism Research
- Genotype differences in cognitive functioning in Noonan syndrome
- (2008) E. I. Pierpont et al. GENES BRAIN AND BEHAVIOR
- Neurofibromatosis Type 1 Revisited
- (2008) V. C. Williams et al. PEDIATRICS
- Mecp2-Null Mice Provide New Neuronal Targets for Rett Syndrome
- (2008) Rocio G. Urdinguio et al. PLoS One
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started