Associated Papers
Clinical and molecular genetic analysis of children with severe short stature due to isolated growth hormone deficiency: insights from a South Indian cohort and predictors of growth response.
Dhivya S et al.
Pituitary, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
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A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.
Kale S et al.
Pituitary, 2020
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
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
Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency.
de Silva KS et al.
The Ceylon Medical Journal, 2016
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.
Soneda A et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2013
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
Marui S et al.
Hormone Research in Paediatrics, 2012
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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