Adult neuropsychiatric expression and familial segregation of 2q13 duplications (Q35731518)

9 August 2017

Adult neuropsychiatric expression and familial segregation of 2q13 duplications (English)

1 reference

9 August 2017

7

Stephen W Scherer

1 reference

9 August 2017

Gregory Costain

1

1 reference

9 August 2017

Anath C Lionel

2

1 reference

9 August 2017

Fiona Fu

3

1 reference

9 August 2017

Dimitri J Stavropoulos

4

1 reference

9 August 2017

Matthew J Gazzellone

5

1 reference

9 August 2017

Christian R Marshall

6

1 reference

9 August 2017

Anne S Bassett

8

1 reference

9 August 2017

language of work or name

1 reference

8 May 2014

1 reference

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

9 August 2017

1 reference

9 August 2017

165B

1 reference

9 August 2017

4

1 reference

9 August 2017

337-344

1 reference

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Evaluating genetic counseling for individuals with schizophrenia in the molecular age

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Chromosomal microarray versus karyotyping for prenatal diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

1q21.1 Microduplication expression in adults

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Hair pulling disorder (trichotillomania): genes, neurobiology, and a model for understanding impulsivity and compulsivity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Functional regulation of GABAA receptors in nervous system pathologies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

A copy number variation morbidity map of developmental delay

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Phenotype mining in CNV carriers from a population cohort

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Strong association of de novo copy number mutations with sporadic schizophrenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Genetic epidemiology of alcohol-induced blackouts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Noradrenergic pathways involved in the development of vertigo and dizziness--a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Parental expression is overvalued in the interpretation of rare inherited variants

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

Hyperasparaginemia in a schizophrenic patient.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4464821

25 September 2018

Identifiers

DOI

10.1002/AJMG.B.32236

1 reference

9 August 2017

1 reference

9 August 2017

1 reference