Associated Papers
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L et al.
Endocrine Connections, 2023
37561071 (PubMed )
Supplement: supplementary_table_3.pdf
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
Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.
Kim YW et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S4
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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 short children with apparent growth hormone insensitivity.
Wit JM et al.
Hormone Research in Paediatrics, 2012
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