(Q37235180)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay (English)

1 reference

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25 February 2020

1

1 reference

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25 February 2020

8

Pawel Stankiewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Przemyslaw Szafranski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Chun-An Chen

3

1 reference

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25 February 2020

LaDonna Immken

4

1 reference

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25 February 2020

Gayle Simpson Patel

5

1 reference

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25 February 2020

Patricia Hixson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Sau Wai Cheung

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Christian P Schaaf

9

1 reference

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25 February 2020

publication date

13 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

25 February 2020

published in

1 reference

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25 February 2020

volume

21

1 reference

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25 February 2020

issue

11

1 reference

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25 February 2020

page(s)

1304-1307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

Detection of clinically relevant exonic copy-number changes by array CGH.

25 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Expanding the mind: insulin-like growth factor I and brain development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

PACAP type I receptor transactivation is essential for IGF-1 receptor signalling and antiapoptotic activity in neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Induction of apoptosis in cerebellar granule neurons by low potassium: inhibition of death by insulin-like growth factor I and cAMP.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Differential expression of insulin-like growth factor genes in rat central nervous system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Patterns of insulin-like growth factor and IGF receptor gene expression in the brain. Functional implications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Igf1 gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumin-containing neurons

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Transient IGF-I gene expression during the maturation of functionally related central projection neurons

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

GABAB receptor activation protects neurons from apoptosis via IGF-1 receptor transactivation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Phenotype-genotype correlation in a familial IGF1R microdeletion case.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studies.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798847

De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.42

Continuing Positive Secular Growth Change in the Netherlands 1955–1997

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23486542

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

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25 February 2020

PubMed publication ID

23486542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486542%20AND%20SRC:MED&resulttype=core&format=json