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

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

19898479

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6 August 2017

title

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

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Europe PubMed Central

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19898479

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6 August 2017

author

Samarth Bhatt

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Samarth S Bhatt

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3

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Marwan Shinawi

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Marwan Shinawi

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1

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Pawel Stankiewicz

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15

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Pawel Stankiewicz

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Europe PubMed Central

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19898479

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6 August 2017

Ankita Patel

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5

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Ankita Patel

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19898479

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6 August 2017

author name string

Christian P Schaaf

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2

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19898479

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6 August 2017

Zhilian Xia

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4

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19898479

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Sau Wai Cheung

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19898479

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Brendan Lanpher

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7

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Sandra Nagl

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Heinrich Stephan Herding

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Claudia Nevinny-Stickel

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19898479

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6 August 2017

LaDonna L Immken

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19898479

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6 August 2017

Gayle Simpson Patel

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12

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Jennifer Ruth German

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13

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19898479

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6 August 2017

Arthur L Beaudet

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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

published in

Nature Genetics

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volume

41

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issue

12

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page(s)

1269-1271

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cites work

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

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PubMed Central

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

retrieved

13 July 2018

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

1 reference

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PubMed Central

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

retrieved

13 July 2018

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

1 reference

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PubMed Central

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

retrieved

13 July 2018

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

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PubMed Central

reference URL

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

retrieved

13 July 2018

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

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PubMed Central

reference URL

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

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13 July 2018

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

1 reference

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PubMed Central

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

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13 July 2018

Large recurrent microdeletions associated with schizophrenia

1 reference

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PubMed Central

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

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13 July 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

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PubMed Central

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

retrieved

13 July 2018

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

1 reference

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PubMed Central

reference URL

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

retrieved

13 July 2018

DUBA: a deubiquitinase that regulates type I interferon production

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PubMed Central

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

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13 July 2018

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

1 reference

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PubMed Central

reference URL

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

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13 July 2018

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

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PubMed Central

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

retrieved

13 July 2018

Genetics of chromosome 15q13-q14 in schizophrenia

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PubMed Central

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

retrieved

13 July 2018

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

1 reference

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PubMed Central

reference URL

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

retrieved

27 September 2018

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

1 reference

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PubMed Central

reference URL

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

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27 September 2018

Identifiers

DOI

10.1038/NG.481

1 reference

stated in

Europe PubMed Central

PubMed publication ID

19898479

retrieved

6 August 2017

PMC publication ID

3158565

1 reference

stated in

Europe PubMed Central

PubMed publication ID

19898479

retrieved

6 August 2017

PubMed publication ID

19898479

1 reference

stated in

Europe PubMed Central

PubMed publication ID

19898479

retrieved

6 August 2017

ResearchGate publication ID

38075394

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