Failure to Thrive
|
0.100 |
Biomarker
|
disease |
BEFREE |
Human deficiency in IGF1R is involved in growth failure, microcephaly, mental retardation and deafness, and its overactivation is implicated in oncogenesis.
|
25238791 |
2015 |
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
BEFREE |
IGF1R aberrations lead to intrauterine and postnatal growth failure, microcephaly, mental retardation and deafness.
|
24863809 |
2014 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with heterozygous mutations or deletions of IGF1R have a moderate pre- and postnatal growth failure, microcephaly and a history of feeding problems.
|
23428682 |
2013 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the IGF1 receptor (IGF1R) gene lead to partial resistance to IGF1 and contribute to intrauterine growth retardation (IUGR) with postnatal growth failure.
|
23045302 |
2013 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results show a novel missense mutation in the IGF1R gene (c.A1549T, p.Y487F) associated with prenatal and postnatal growth failure and microcephaly in the context of familial short stature.
|
22738321 |
2013 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
IGF1R mutations cause IGF-1 resistance resulting in intrauterine and postnatal growth failure.
|
24296753 |
2013 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects.
|
22130793 |
2012 |
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition, heterozygous mutations or gene deletions in the growth hormone-insulin-like growth factor (GH-IGF) axis such as the GH, GH-releasing hormone receptor, GH receptor, STAT5b, IGF-I, IGF-I receptor and the acid labile subunit have also been observed in children with growth failure and short stature.
|
21912148 |
2011 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.
|
20962017 |
2011 |
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, while growth failure and mental retardation are primarily explained by loss of IGF1R, the occurrence of VSD might suggest the existence of a cardiac anomaly gene, other than the candidate cardiac anomaly gene NR2F2, in the deleted region.
|
21242650 |
2011 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MLPA and aCGH are useful tools to detect submicroscopic deletions of the IGF1R gene in patients born small for gestational age with persistent growth failure.
|
18349070 |
2008 |
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
BEFREE |
We postulated that mutations in the gene for the insulin-like growth factor I receptor (IGF-IR) might underlie some cases of prenatal and postnatal growth failure.
|
14657428 |
2003 |
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
BEFREE |
Individuals with a deletion of 15q26.1-->qter which contains the insulin-like growth factor-I (IGF-I) receptor gene exhibit phenotypical similarities to patients with Silver-Russell syndrome (SRS) who represent a group of short children affected by pre- and postnatal growth failure and several dysmorphic features.
|
12387515 |
2003 |
Failure to Thrive
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The correlation between IGF1R gene dosage and growth retardation demonstrated here in our ring chromosome 15 patients suggests a possible role for heterozygous IGF1R gene mutations or deletions in other cases of unexplained growth failure.
|
7789178 |
1995 |