Associated Papers
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.
Domené S et al.
Cells, 2021
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.
Li R et al.
Frontiers in Endocrinology, 2021
Growth Hormone Receptor Mutations Related to Individual Dwarfism.
Lin S et al.
International Journal of Molecular Sciences, 2018
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].
Diniz ET et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.
Fang P et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Gastier JM et al.
Human Mutation, 2000
Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction.
Rosenbloom AL
Endocrine, 2000
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.
Wojcik J et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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