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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
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
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 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
Characterization of a Novel POU1F1 Mutation Identified on Screening 160 Growth Hormone Deficiency Patients.
Birla S et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor.
Aguiar-Oliveira MH et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2018
MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.
Aguiar-Oliveira MH et al.
European Journal of Endocrinology, 2017
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
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
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 genetic studies in isolated growth hormone deficiency (IGHD).
Desai MP et al.
Indian Journal of Pediatrics, 2013
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
Molecular and clinical aspects of GHRH receptor mutations.
Corazzini V et al.
Endocrine Development, 2013
A 5'UTR SNP of GHRHR locus is associated with body weight and average daily gain in Chinese cattle.
Zhang CF et al.
Molecular Biology Reports, 2012
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD).
Desai MP et al.
Indian Journal of Pediatrics, 2012
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
Alatzoglou KS et al.
Indian Journal of Pediatrics, 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
Genetic causes and treatment of isolated growth hormone deficiency-an update.
Alatzoglou KS et al.
Nature Reviews. Endocrinology, 2010
Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.
Sıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2010
Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.
Wang Q et al.
Molecular and Cellular Endocrinology, 2009
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
Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.
Pereira RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.
Desai MP et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
Voice abnormality in adults with congenital and adult-acquired growth hormone deficiency.
Moore C et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene.
Kamijo T et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2004
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 2004
[Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil].
Souza AH et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene.
Alba M et al.
Clinical Endocrinology, 2004
Novel insights into the aetiology and pathogenesis of hypopituitarism.
Dattani MT
Hormone Research, 2004
Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
Wajnrajch MP et al.
American Journal of Medical Genetics. Part A, 2003
Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene.
Oliveira HA et al.
European Journal of Endocrinology, 2003
Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene.
Salvatori R et al.
European Journal of Endocrinology, 2002
Familial isolated growth hormone deficiency: genetics and pathophysiology.
Hayashi Y et al.
Endocrine Journal, 2002
[Isolated GH deficiency due to inactivating mutation of GHRH receptor].
Horikawa R
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.
Salvatori R et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Pituitary gene mutations and the growth hormone pathway.
Moseley CT et al.
Seminars in Reproductive Medicine, 2000
Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.
Baumann G
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 1999
Cloning and characterization of the 5'-flanking region of the human growth hormone-releasing hormone receptor gene.
Iguchi G et al.
The Journal of Biological Chemistry, 1999
Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.
Salvatori R et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
The molecular genetics of growth hormone deficiency.
Procter AM et al.
Human Genetics, 1998