Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
The recent biosynthesis of insulin-like growth factor I has enabled the successful treatment of these patients, accelerating their growth, reducing their obesity, and normalizing their metabolic abnormalities resultant from the insulin-like growth factor I deficiency.
|
8374676 |
1993 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.
|
8857020 |
1996 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.
|
8857020 |
1996 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
IGF-I deficiency is associated with prenatal and post-natal growth failure and may arise primarily as a result of GH receptor/post-receptor abnormalities or defects in the synthesis and transport of IGF-I.
|
10549306 |
1999 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have recently reported a patient with a homozygous partial deletion of the insulin-like growth factor-I (IGF-I) gene, resulting in IGF-I deficiency, insulin resistance, and short stature.
|
10770174 |
2000 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
|
14684690 |
2003 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.
|
14684690 |
2003 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The polymorphisms identified in the upstream core polyadenylation signal at IGF1 exon 6 do not cause IGF1 deficiency as well as pre- and postnatal growth impairment, in contrast to previously reported data.
|
17895313 |
2007 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency.
|
18359741 |
2008 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although IGFD can develop at any level of the GH-releasing hormone (GHRH)-GH-IGF axis, a differentiation should be made between GHD (absent to low GH in circulation) and IGFD (normal to high GH in circulation).
|
21274339 |
2010 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We assessed the efficacy and safety of recombinant human insulin-like growth factor 1 (IGF-1) therapy over a period of 7.5 years in a child with severe IGF-1 deficiency.
|
19517134 |
2010 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In our previous reports, liver- or pancreatic-specific IGF-I deficiency caused no decrease in β-cell mass; a general and β-cell-enriched IGF-I overexpression caused no change in normal islet cell growth.
|
19876774 |
2010 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Long-term auxological and pubertal outcome of patients with hereditary insulin-like growth factor-I deficiency (Laron and growth hormone-gene deletion syndrome) treated with recombinant human insulin-like growth factor-I.
|
20543555 |
2011 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because Insulin-like-Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be considered as a form of IGF-I deficiency (IGFD).
|
21396573 |
2011 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
IGF-I deficiency is transmitted as an autosomal recessive trait and is caused by homozygous mutations in the IGF1 gene.
|
21396584 |
2011 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
To investigate whether congenital IGF1 deficiency confers protection against development of malignancies, by comparing the prevalence of malignancies in patients with congenital (secondary) deficiency of IGF1 with the prevalence of cancer in their family members.
|
21292919 |
2011 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
There are eight known genetic causes of short stature characterized by low serum IGF-1 (IGF-1 deficiency, IGFD) and normal GH secretion.
|
23182818 |
2012 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
At the lower end of the GHRH-IGF-1 axis, primary IGF-1 deficiency and IGF-1 resistance due to defects within the IGF-1 and IGF-1 receptor (IGF-1R) genes account for approximately 10-15% of all cases with intrauterine and postnatal growth retardation.
|
23182819 |
2012 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Endocrine evaluations (normal provocative GH tests; low serum IGF-I, -3.7 SDS, and IGF-binding protein-3, -4.5 SDS) were consistent with GHI and IGFD.
|
22419735 |
2012 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
IGF-I deficiency is a common feature in SS without defined etiology; an Indel in the IGF1 gene was associated with SS.
|
23596138 |
2013 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Twenty-one children with severe IGFD were treated until adult or near-adult height under a predominantly open-label design.All patients were naive to IGF-I.
|
23887143 |
2013 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
The aim of this work was to confirm that heterozygous Igf-1 (+/-) mice (Hz) may be considered as an appropriate animal model to study conditions of IGF-1 deficiency, focusing on early ages.
|
24043429 |
2014 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genomic analysis of primordial dwarfism reveals novel disease genes.
|
24389050 |
2014 |
Insulin-Like Growth Factor I Deficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Age-related decline in circulating IGF-1 levels results in functional impairment of the cerebral microvessels; however, the mechanistic role of IGF-1 deficiency in impaired hippocampal microvascularization remains elusive.
|
27613724 |
2016 |