A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes (Q35172094)

6 August 2017

title

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

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6 August 2017

Samarth S Bhatt

3

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Marwan Shinawi

object named as

Marwan Shinawi

1

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Pawel Stankiewicz

15

object named as

Pawel Stankiewicz

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6 August 2017

5

Ankita Patel

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6 August 2017

Christian P Schaaf

2

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6 August 2017

Zhilian Xia

4

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6 August 2017

Sau Wai Cheung

6

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6 August 2017

Brendan Lanpher

7

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6 August 2017

Sandra Nagl

8

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6 August 2017

Heinrich Stephan Herding

9

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6 August 2017

Claudia Nevinny-Stickel

10

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6 August 2017

LaDonna L Immken

11

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6 August 2017

Gayle Simpson Patel

12

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6 August 2017

Jennifer Ruth German

13

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6 August 2017

Arthur L Beaudet

14

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6 August 2017

language of work or name

English

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publication date

8 November 2009

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6 August 2017

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6 August 2017

volume

41

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6 August 2017

issue

12

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6 August 2017

page(s)

1269-1271

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

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

Large recurrent microdeletions associated with schizophrenia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

Rare chromosomal deletions and duplications increase risk of schizophrenia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

DUBA: a deubiquitinase that regulates type I interferon production

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

Genetics of chromosome 15q13-q14 in schizophrenia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

Increased sensitivity to nicotine-induced seizures in mice expressing the L250T alpha 7 nicotinic acetylcholine receptor mutation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158565

27 September 2018

Identifiers

DOI

10.1038/NG.481

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6 August 2017

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6 August 2017

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