A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. (Q37428944)

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1 March 2020

title

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency (English)

1 reference

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1 March 2020

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Lara Batey

1

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1 March 2020

Jennifer E Moon

2

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1 March 2020

Bingbing Wu

4

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Yiping Shen

6

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1 March 2020

Andrew Dauber

7

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1 March 2020

language of work or name

English

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publication date

20 December 2013

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The Journal of Clinical Endocrinology and Metabolism

1 March 2020

published in

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1 March 2020

volume

99

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1 March 2020

issue

1

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1 March 2020

page(s)

E153-9

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Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Rare copy number variants are a common cause of short stature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Short Stature Associated with a Novel Heterozygous Mutation in theInsulin-Like Growth Factor 1Gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

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=3879666

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3879666

Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24243634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24243634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24243634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2013-3106

1 reference

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1 March 2020

1 reference

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1 March 2020

PubMed publication ID

24243634

1 reference