(Q21261497)

17 August 2022

9

Juliane Hoyer

Juliane

Hoyer

1 reference

17 August 2022

20

Anita Rauch

Anita

Rauch

1 reference

17 August 2022

16

Reinhard Ullmann

Reinhard

Ullmann

1 reference

17 August 2022

5

Arif B Ekici

Arif B

Ekici

1 reference

17 August 2022

8

Denise Horn

Denise

Horn

1 reference

17 August 2022

Anne Gregor

1

Anne

Gregor

1 reference

17 August 2022

Beate Albrecht

2

Beate

Albrecht

1 reference

17 August 2022

Ingrid Bader

3

Ingrid

Bader

1 reference

17 August 2022

Emilia K Bijlsma

4

Emilia K

Bijlsma

1 reference

17 August 2022

Hartmut Engels

6

Hartmut

Engels

1 reference

17 August 2022

Karl Hackmann

7

Karl

Hackmann

1 reference

17 August 2022

Jakub Klapecki

10

Jakub

Klapecki

1 reference

17 August 2022

Jürgen Kohlhase

11

Jürgen

Kohlhase

1 reference

17 August 2022

Isabelle Maystadt

12

Isabelle

Maystadt

1 reference

17 August 2022

Sandra Nagl

13

Sandra

Nagl

1 reference

17 August 2022

Eva Prott

14

Eva

Prott

1 reference

17 August 2022

Sigrid Tinschert

15

Sigrid

Tinschert

1 reference

17 August 2022

Eva Wohlleber

17

Eva

Wohlleber

1 reference

17 August 2022

Geoffrey Woods

18

Geoffrey

Woods

1 reference

17 August 2022

Christiane Zweier

21

Christiane

Zweier

1 reference

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

17 August 2022

language of work or name

English

0 references

publication date

2011

0 references

published in

BMC Medical Genetics

0 references

volume

12

0 references

issue

1

0 references

page(s)

106

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

A functional genetic link between distinct developmental language disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Disruption of the neurexin 1 gene is associated with schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Structural variation of chromosomes in autism spectrum disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Disruption of neurexin 1 associated with autism spectrum disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Hotspots of large rare deletions in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

New copy number variations in schizophrenia.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Gene associated with seizures, autism, and hepatomegaly in an Amish girl

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Neurexin 1alpha structural variants associated with autism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

The oligogenic properties of Bardet-Biedl syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

12 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-12-106

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=3162517

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3162517

29 November 2018

Identifiers

DOI

10.1186/1471-2350-12-106

0 references

PMC publication ID

3162517

0 references