A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. (Q45938326)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Paolo Prontera

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Alberto Verrotti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Valerio Napolioni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Gabriela Stangoni

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Giuseppe Merla

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

publication date

24 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

page(s)

1043-1047

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

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

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Mutations in PIK3R1 cause SHORT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Something old, something new and something borrowed: emerging paradigm of insulin-like growth factor type 1 receptor (IGF-1R) signaling regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

The aging stress response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

The role of the insulin-like growth factor-I receptor in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Autophagy fights disease through cellular self-digestion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Wiedemann-Rautenstrauch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Rejuvenating somatotropic signaling: a therapeutical opportunity for premature aging?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

inferred from DOI database lookup

7 January 2021

based on heuristic

Diagnostic efficiency of serum IGF-I, IGF-binding protein-3 (IGFBP-3), IGF-I/IGFBP-3 molar ratio and urinary GH measurements in the diagnosis of adult GH deficiency: importance of an appropriate reference population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22853

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22853

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26252249%20AND%20SRC:MED&resulttype=core&format=json

release_k3avrsabs5e4dl7qvz7iwy2rcm

21 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/k3avrsabs5e4dl7qvz7iwy2rcm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference