Evidence for involvement of GNB1L in autism

scientific article

Evidence for involvement of GNB1L in autism is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/AJMG.B.32002
P932PMC publication ID3270696
P698PubMed publication ID22095694
P5875ResearchGate publication ID51807889

P50authorEvan E. EichlerQ5415373
Geraldine DawsonQ5549737
Ellen M. WijsmanQ37369759
Santhosh GirirajanQ47503889
Debby W TsuangQ47504379
Annette EstesQ51302528
Deborah A NickersonQ92804625
Zoran BrkanacQ125195561
P2093author name stringWendy H Raskind
Ying-Zhang Chen
Mark J Rieder
Ming T Tsuang
Raphael Bernier
Nancy Minshew
Mark Matsushita
Elizabeth Sun
Mark Lisowski
Youngmee Sul
Gerard D Shellenberg
P2860cites workThe neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspectiveQ37219670
The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette SyndromeQ37801080
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the populationQ39653732
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndromeQ46174524
PMUT: a web-based tool for the annotation of pathological mutations on proteins.Q46477731
Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patientsQ46582273
Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in miceQ46761734
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).Q48332601
Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom ScaleQ48438053
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptomsQ50302980
Evidence for multiple loci from a genome scan of autism kindreds.Q50303249
Association of syndromic mental retardation and autism with 22q11.2 duplicationQ50305704
Autistic disorder and 22q11.2 duplicationQ50313803
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndromeQ50344711
Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic studyQ50344810
Association study between GNB1L and three major mental disorders in Chinese Han populations.Q51849824
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.Q51905604
Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".Q51995840
High rates of schizophrenia in adults with velo-cardio-facial syndrome.Q52173679
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.Q52179872
Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids.Q53481946
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationQ24312962
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersQ24337114
Microduplication and triplication of 22q11.2: a highly variable syndromeQ24531527
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsQ24532183
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomesQ24534193
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyQ24594051
Disruption of neurexin 1 associated with autism spectrum disorderQ24643899
Contribution of SHANK3 mutations to autism spectrum disorderQ24648672
Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behaviorQ24671972
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenQ24675242
Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disordersQ27861089
Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studiesQ28215775
A survey of the 22q11 microdeletion in a large cohort of schizophrenia patientsQ28302631
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosageQ28585095
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndromeQ28587462
SIFT: Predicting amino acid changes that affect protein functionQ29547211
The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autismQ29547456
Human non-synonymous SNPs: server and surveyQ29547603
Genome architecture, rearrangements and genomic disordersQ29614721
The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaborationQ30491329
Structural variation in the human genome and its role in diseaseQ33522758
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndromeQ33622905
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomesQ33736558
Supportive evidence for reduced expression of GNB1L in schizophreniaQ33950938
Department of Veterans Affairs Cooperative Studies Program genetic linkage study of schizophrenia: ascertainment methods and sample descriptionQ33970867
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11Q34389097
Strong evidence that GNB1L is associated with schizophreniaQ34713665
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.Q34770044
Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16Q34858439
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and diseaseQ35809326
Annotation: velo-cardio-facial syndromeQ36118609
Mutations in the TSGA14 gene in families with autism spectrum disordersQ36555585
Schizophrenia: a common disease caused by multiple rare allelesQ36747985
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplicationQ37030991
Advances in autism genetics: on the threshold of a new neurobiologyQ22251023
Copy-number variations associated with neuropsychiatric conditionsQ22251090
GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptideQ24290500
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletionsQ24295078
Role of TBX1 in human del22q11.2 syndromeQ24298685
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismQ24299042
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersQ24305646
P433issue1
P921main subjectautismQ38404
P304page(s)61-71
P577publication date2011-11-16
P1433published inAmerican Journal of Medical Genetics Part B: Neuropsychiatric GeneticsQ15762380
P1476titleEvidence for involvement of GNB1L in autism
P478volume159B

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cites work (P2860)
Q34807703A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism
Q39162002A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
Q28655923An evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autism
Q36217805Association testing of copy number variants in schizophrenia and autism spectrum disorders
Q44301150Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan
Q33364337Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach
Q28087577Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
Q38478012Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders
Q38184927Glutamatergic candidate genes in autism spectrum disorder: an overview
Q28081179Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development

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