(Q50306233)

2 March 2018

title

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. (English)

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2 March 2018

main subject

microdeletion syndrome

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N Hoppman-Chaney

1

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2 March 2018

K Wain

2

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2 March 2018

P R Seger

3

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2 March 2018

D W Superneau

4

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2 March 2018

J C Hodge

5

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2 March 2018

publication date

7 August 2012

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2 March 2018

published in

Clinical Genetics

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2 March 2018

volume

83

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2 March 2018

issue

4

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2 March 2018

page(s)

345-351

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2 March 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Delineation of 15q13.3 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Genetics of chromosome 15q13-q14 in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01925.X

10.1111/J.1399-0004.2012.01925.X

21 January 2018

Identifiers

DOI

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2 March 2018

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2 March 2018