A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion (Q35000762)

5 August 2017

title

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion (English)

1 reference

5 August 2017

Marina Viñas-Jornet

1

1 reference

5 August 2017

Susanna Esteba-Castillo

2

1 reference

5 August 2017

Elisabeth Gabau

3

1 reference

5 August 2017

Núria Ribas-Vidal

4

1 reference

5 August 2017

Neus Baena

5

1 reference

5 August 2017

Joan San

6

1 reference

5 August 2017

Anna Ruiz

7

1 reference

5 August 2017

Maria Dolors Coll

8

1 reference

5 August 2017

Ramon Novell

9

1 reference

5 August 2017

Miriam Guitart

10

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5 August 2017

publication date

18 August 2014

1 reference

Molecular genetics & genomic medicine

5 August 2017

published in

1 reference

5 August 2017

volume

2

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5 August 2017

issue

6

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5 August 2017

page(s)

512-521

1 reference

CNVs conferring risk of autism or schizophrenia affect cognition in controls

5 August 2017

cites work

1 reference

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Promoter-like sequences regulating transcriptional activity in neurexin and neuroligin genes

8 July 2018

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Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders.

8 July 2018

1 reference

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

CNVs: harbingers of a rare variant revolution in psychiatric genetics

8 July 2018

1 reference

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Genetic investigation for adults with intellectual disability: opportunities and challenges

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

8 July 2018

Synaptic cell adhesion

1 reference

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A copy number variation morbidity map of developmental delay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

New copy number variations in schizophrenia.

8 July 2018

1 reference

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Psychiatric features in children with genetic syndromes: toward functional phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Copy number variation in schizophrenia in the Japanese population

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

ProSeeK: a web server for MLPA probe design

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Disruption of the neurexin 1 gene is associated with schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Global variation in copy number in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Mental ill-health in adults with intellectual disabilities: prevalence and associated factors

8 July 2018

1 reference

Mental disorder in adults with intellectual disability. 2: The rate of behaviour disorders among a community-based population aged between 16 and 64 years.

21 January 2018

1 reference

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

21 January 2018

1 reference

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.

21 January 2018

1 reference

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303221

Investigation of NRXN1 deletions: clinical and molecular characterization

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25614873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.105

1 reference

5 August 2017

1 reference

5 August 2017

1 reference