(Q48266603)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

The complex behavioral phenotype of 15q13.3 microdeletion syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

6

1 reference

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10 March 2020

Jill A Rosenfeld

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Michael J Gambello

9

1 reference

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10 March 2020

Charles G Minard

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Christian P Schaaf

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

19

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Mark N Ziats

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Robin P Goin-Kochel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Leandra N Berry

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

May Ali

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Jun Ge

5

1 reference

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10 March 2020

Patricia Bader

8

1 reference

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10 March 2020

Varina Wolf

10

1 reference

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10 March 2020

Lynette S Penney

11

1 reference

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10 March 2020

Ryan Miller

12

1 reference

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10 March 2020

Robert Roger Lebel

13

1 reference

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10 March 2020

Jeffrey Kane

14

1 reference

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10 March 2020

Kristine Bachman

15

1 reference

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10 March 2020

Robin Troxell

16

1 reference

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10 March 2020

Gary Clark

17

1 reference

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10 March 2020

Arthur Beaudet

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

10 March 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

1111-1118

1 reference

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10 March 2020

issue

11

1 reference

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https://scigraph.springernature.com/pub.10.1038/gim.2016.9

10 March 2020

exact match

0 references

cites work

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

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/10.1038%2FGIM.2016.9

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Refining analyses of copy number variation identifies specific genes associated with developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

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/10.1038%2FGIM.2016.9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

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/10.1038%2FGIM.2016.9

Delineation of 15q13.3 microdeletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

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/10.1038%2FGIM.2016.9

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

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/10.1038%2FGIM.2016.9

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

The human clinical phenotypes of altered CHRNA7 copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

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/10.1038%2FGIM.2016.9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Cholinergic abnormalities in autism: is there a rationale for selective nicotinic agonist interventions?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

Targeting the nicotinic alpha7 acetylcholine receptor to enhance cognition in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.9

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26963284

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26963284

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26963284%20AND%20SRC:MED&resulttype=core&format=json

release_wj6kwlvwlnbbbalvye6623fkf4

10 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wj6kwlvwlnbbbalvye6623fkf4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference