(Q30504581)

23 September 2017

Evidence for involvement of GNB1L in autism (English)

1 reference

23 September 2017

0 references

17

1 reference

23 September 2017

8

Annette Estes

1 reference

23 September 2017

Debby W Tsuang

15

0 references

Geraldine Dawson

9

object named as

Geraldine Dawson

1 reference

23 September 2017

14

Deborah A Nickerson

1 reference

23 September 2017

12

Evan E Eichler

1 reference

23 September 2017

19

Zoran Brkanac

1 reference

23 September 2017

3

Santhosh Girirajan

1 reference

23 September 2017

Ying-Zhang Chen

1

1 reference

23 September 2017

Mark Matsushita

2

1 reference

23 September 2017

Mark Lisowski

4

1 reference

23 September 2017

Elizabeth Sun

5

1 reference

23 September 2017

Youngmee Sul

6

1 reference

23 September 2017

Raphael Bernier

7

1 reference

23 September 2017

Nancy Minshew

10

1 reference

23 September 2017

Gerard D Shellenberg

11

1 reference

23 September 2017

Mark J Rieder

13

1 reference

23 September 2017

Ming T Tsuang

16

1 reference

23 September 2017

Wendy H Raskind

18

1 reference

23 September 2017

16 November 2011

1 reference

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

23 September 2017

1 reference

23 September 2017

159B

1 reference

23 September 2017

1

1 reference

23 September 2017

61-71

1 reference

Mutations in the TSGA14 gene in families with autism spectrum disorders

23 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

The genetics of child psychiatric disorders: focus on autism and Tourette syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Structural variation in the human genome and its role in disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Supportive evidence for reduced expression of GNB1L in schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Copy-number variations associated with neuropsychiatric conditions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Advances in autism genetics: on the threshold of a new neurobiology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Disruption of neurexin 1 associated with autism spectrum disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Strong evidence that GNB1L is associated with schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Contribution of SHANK3 mutations to autism spectrum disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Schizophrenia: a common disease caused by multiple rare alleles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaboration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Annotation: velo-cardio-facial syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Microduplication and triplication of 22q11.2: a highly variable syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Role of TBX1 in human del22q11.2 syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

SIFT: Predicting amino acid changes that affect protein function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Genome architecture, rearrangements and genomic disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Department of Veterans Affairs Cooperative Studies Program genetic linkage study of schizophrenia: ascertainment methods and sample description

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

20 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom Scale.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Association study between GNB1L and three major mental disorders in Chinese Han populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Association of syndromic mental retardation and autism with 22q11.2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Autistic disorder and 22q11.2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

High rates of schizophrenia in adults with velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Evidence for multiple loci from a genome scan of autism kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.32002

Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3270696

26 November 2018

Identifiers

DOI

10.1002/AJMG.B.32002

1 reference

23 September 2017

1 reference

23 September 2017

1 reference