(Q37419604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

0 references

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

S Ben-Shachar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

B Lanpher

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

J R German

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

M Qasaymeh

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

L Potocki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

S C Sreenath Nagamani

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

L M Franco

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

A Malphrus

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

G W Bottenfield

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

J E Spence

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

S Amato

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

J A Rousseau

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

B Moghaddam

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

C Skinner

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

S A Skinner

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

S Bernes

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

N Armstrong

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

P Stankiewicz

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

A Patel

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

S-W Cheung

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

J R Lupski

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

A L Beaudet

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

T Sahoo

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

language of work or name

English

0 references

publication date

15 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

23 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

page(s)

382-388

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

23 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Large recurrent microdeletions associated with schizophrenia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Identifying autism loci and genes by tracing recent shared ancestry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Strong association of de novo copy number mutations with sporadic schizophrenia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Structural variation of chromosomes in autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Association between microdeletion and microduplication at 16p11.2 and autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Genomic rearrangements and sporadic disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Strong association of de novo copy number mutations with autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Schizophrenia and the alpha7 nicotinic acetylcholine receptor

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Protecting the privacy of third-party information: recommendations for social and behavioral health researchers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Protecting third parties in human subjects research

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Segmental duplications and copy-number variation in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Detection of large-scale variation in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Large-scale copy number polymorphism in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Schizophrenia and velo-cardio-facial syndrome.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Genome architecture, rearrangements and genomic disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Eye movements in schizophrenia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2776649

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19289393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19289393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19289393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2008.064378

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19289393%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference