Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 (Q21261497)

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

https://scigraph.springernature.com/pub.10.1186/1471-2350-12-106

Zweier

1 reference

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

exact match

0 references

cites work

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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

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

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

19 March 2017

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

19 March 2017

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19 March 2017

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

19 March 2017

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

19 March 2017

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

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

19 March 2017

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New copy number variations in schizophrenia.

7 April 2017

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

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

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

12 September 2017

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

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Recurrent CNVs disrupt three candidate genes in schizophrenia patients

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12 September 2017

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12 September 2017

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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

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