Associated Papers
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.
Giacomozzi C et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Insulin-like Growth Factor 1 Signaling in Mammalian Hearing.
García-Mato Á et al.
Genes, 2021
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Walenkamp MJE et al.
European Journal of Endocrinology, 2019
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC et al.
European Journal of Endocrinology, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ et al.
Endocrine Development, 2013
[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].
Leal Ade C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity.
Woods K
Endocrine Development, 2007
Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: correlation with effects on growth and development.
Denley A et al.
Molecular Endocrinology (baltimore, Md.), 2005
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