Associated Papers
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Structural basis for activation of the growth hormone-releasing hormone receptor.
Zhou F et al.
Nature Communications, 2020
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E et al.
Human Mutation, 2019
Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.
Birla S et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016
A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.
Kale S et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2014
Molecular and clinical aspects of GHRH receptor mutations.
Corazzini V et al.
Endocrine Development, 2013
Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
Camats N et al.
Clinical Endocrinology, 2012
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
Marui S et al.
Hormone Research in Paediatrics, 2012
Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
Inoue H et al.
Clinical Endocrinology, 2011
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Alatzoglou KS et al.
Nature Reviews. Endocrinology, 2010
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
Godi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 2004