Associated Papers
IGF-I bioavailability in congenital isolated growth hormone deficiency.
Campos VC et al.
European Journal of Endocrinology, 2026
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
Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.
Guazzarotti L et al.
Endocrine Connections, 2025
Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.
Villar-Gouy KR et al.
Journal of Endocrinological Investigation, 2024
Function and form of the shoulder in congenital and untreated growth hormone deficiency.
Santos HT et al.
Endocrine, 2023
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome.
Aguiar-Oliveira MH et al.
Archives of Endocrinology and Metabolism, 2022
Circulating microRNA profile in humans and mice with congenital GH deficiency.
Saccon TD et al.
Aging Cell, 2021
Individuals with isolated congenital GH deficiency due to a GHRH receptor gene mutation appear to cope better with SARS-CoV-2 infection than controls.
Melo MA et al.
Endocrine, 2021
Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.
Aguiar-Oliveira MH et al.
Reviews in Endocrine & Metabolic Disorders, 2021
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
Sweat and vitamin D status in congenital, lifetime, untreated GH deficiency.
Barros-Oliveira CS et al.
Endocrine, 2019
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.
Nakaguma M et al.
Endocrine Connections, 2019
Growth Hormone Deficiency: Health and Longevity.
Aguiar-Oliveira MH et al.
Endocrine Reviews, 2019
The role of GPCRs in bone diseases and dysfunctions.
Luo J et al.
Bone Research, 2019
Occurrence of neoplasms in individuals with congenital, severe GH deficiency from the Itabaianinha kindred.
Marinho CG et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2018
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
Ocular findings in adult subjects with an inactivating mutation in GH releasing hormone receptor gene.
Faro ACN et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2017
Infectious diseases and immunological responses in adult subjects with lifetime untreated, congenital GH deficiency.
Campos VC et al.
Endocrine, 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
Voice Formants in Individuals With Congenital, Isolated, Lifetime Growth Hormone Deficiency.
Valença EH et al.
Journal of Voice : Official Journal of the Voice Foundation, 2016
Subjects with isolated GH deficiency due to a null GHRHR mutation eat proportionally more, but healthier than controls.
Oliveira-Santos AA et al.
Endocrine, 2016
Brazilian adult individuals with untreated isolated GH deficiency do not have accelerated subclinical atherosclerosis.
Costa UM et al.
Endocrine Connections, 2016
Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjects.
Aguiar-Oliveira MH et al.
Journal of Human Genetics, 2015
Lifetime, untreated isolated GH deficiency due to a GH-releasing hormone receptor mutation has beneficial consequences on bone status in older individuals, and does not influence their abdominal aorta calcification.
Souza AH et al.
Endocrine, 2014
Liver status in congenital, untreated, isolated GH deficiency.
Diniz RD et al.
Endocrine Connections, 2014
Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone.
Epitácio-Pereira CC et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Lifetime congenital isolated GH deficiency does not protect from the development of diabetes.
Vicente TA et al.
Endocrine Connections, 2013
Molecular and clinical aspects of GHRH receptor mutations.
Corazzini V et al.
Endocrine Development, 2013
Insulin sensitivity and β-cell function in adults with lifetime, untreated isolated growth hormone deficiency.
Oliveira CR et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Consequences of lifetime isolated growth hormone (GH) deficiency and effects of short-term GH treatment on bone in adults with a mutation in the GHRH-receptor gene.
de Paula FJ et al.
Clinical Endocrinology, 2009
Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene.
Oliveira CR et al.
Clinical Endocrinology, 2008
Metabolic effects of growth hormone (GH) replacement in children and adolescents with severe isolated GH deficiency due to a GHRH receptor mutation.
Gleeson H et al.
Clinical Endocrinology, 2007
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
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
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
Osorio MG et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha.
Hayashida CY et al.
European Journal of Endocrinology, 2000
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
Hilal L et al.
Molecular Medicine (cambridge, Mass.), 0
Abnormal vascular and neural retinal morphology in congenital lifetime isolated growth hormone deficiency.
Pereira-Gurgel VM et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 0