(Q34470322)

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NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25408897%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders (English)

1 reference

Europe PubMed Central

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23 February 2020

neurodevelopmental disorder

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inferred from title

4

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23 February 2020

author name string

Sarah Curran

1

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23 February 2020

Joo Wook Ahn

2

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23 February 2020

Hannah Grayton

3

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23 February 2020

Caroline Mackie Ogilvie

5

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23 February 2020

publication date

23 April 2013

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23 February 2020

Journal of molecular psychiatry

1 reference

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23 February 2020

1

1 reference

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23 February 2020

1

1 reference

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23 February 2020

4

1 reference

Europe PubMed Central

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23 February 2020

https://scigraph.springernature.com/pub.10.1186/2049-9256-1-4

0 references

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

1 reference

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6 July 2018

Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Copy number variations in neurodevelopmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Rare deletions at the neurexin 3 locus in autism spectrum disorder

1 reference

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6 July 2018

SAM68 regulates neuronal activity-dependent alternative splicing of neurexin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Disruption of the neurexin 1 gene is associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Neuroligins and neurexins link synaptic function to cognitive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Expression of neurexin, neuroligin, and their cytoplasmic binding partners in the pancreatic beta-cells and the involvement of neuroligin in insulin secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Disruption of neurexin 1 associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Important contribution of alpha-neurexins to Ca2+-triggered exocytosis of secretory granules.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Splicing in action: assessing disease causing sequence changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Minimal introns are not "junk".

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Neuroligin 1: a splice site-specific ligand for beta-neurexins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

6 July 2018

Activation of alpha-latrotoxin receptors in neuromuscular synapses leads to a prolonged splash acetylcholine release.

1 reference

https://api.crossref.org/works/10.1186%2F2049-9256-1-4

21 January 2018

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

1 reference

https://api.crossref.org/works/10.1186%2F2049-9256-1-4

21 January 2018

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.

1 reference

https://api.crossref.org/works/10.1186%2F2049-9256-1-4

21 January 2018

Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.

1 reference

https://api.crossref.org/works/10.1186%2F2049-9256-1-4

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4223877

27 October 2018

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

1 reference

https://pubmed.ncbi.nlm.nih.gov/25408897

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/25408897

12 December 2020

based on heuristic

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10.1186/2049-9256-1-4

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23 February 2020

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24 November 2022

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mapped directly with Wikidata item

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23 February 2020

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23 February 2020

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