Associated Papers
Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.
Kim H et al.
Nature Communications, 2022
35907924 (PubMed )
Supplement: 41467_2022_32214_MOESM2_ESM.pdf
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG
A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
Ramírez L et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2020
Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
Kumar A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.
Martucci LC et al.
Molecular and Cellular Endocrinology, 2016
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
Domené HM et al.
Hormone Research in Paediatrics, 2013
Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.
Walenkamp MJ et al.
Hormone Research in Paediatrics, 2013
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