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Mostrando ítems 1-10 de 22
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
(KARGERBASEL, 2012)
Background: Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). Objective: To search for GHRHR mutations in patients with ...
Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency
(Wiley, 2013-03)
The prevalence of GH1 gene alterations is around 20% in patients with severe isolated growth hormone deficiency (IGHD) [...]
The consequences of growth hormone-releasing hormone receptor haploinsufficiency for bone quality and insulin resistance
(WILEY-BLACKWELLHOBOKEN, 2012)
Objective Growth hormone (GH)/insulin-like growth factor (IGF) axis and insulin are key determinants of bone remodelling. Homozygous mutations in the GH-releasing hormone receptor (GHRHR) gene (GHRHR) are a frequent cause ...
Composição corporal, perfil metabólico e inflamatório na heterozigose para uma mutação no gene do receptor do GHRH
(Universidade Federal de SergipePós-Graduação em Ciências da SaúdeBRUFS, 2017)
Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient Little mice
(HOSPITAL CLINICAS, UNIV SAO PAULOSAO PAULO, 2012)
OBJECTIVE: To investigate a possible direct, growth hormone-releasing, hormone-independent action of a growth hormone secretagogue, GHRP-2, in pituitary somatotroph cells in the presence of inactive growth hormone-releasing ...
Função muscular em indivíduos com deficiência isolada do GH devido à mutação no gene do receptor do GHRHMuscle function in individuals with Isolated Growth Hormone Deficiency by genetic mutation GHRH receptor gene
(Pós-Graduação em Ciências Aplicadas à SaúdeUFS, 2020)
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency
(ENDOCRINE SOC, 2011)
Context: Although numerous reports of mutations in GH1 and GHRHR (GHRH receptor) causing isolated GH deficiency (IGHD) have been published, mutations in GHRH itself have not been hitherto reported but are obvious candidates ...
Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient Little mice
(Faculdade de Medicina / USP, 2012)
OBJECTIVE: To investigate a possible direct, growth hormone-releasing, hormone-independent action of a growth hormone secretagogue, GHRP-2, in pituitary somatotroph cells in the presence of inactive growth hormonereleasing ...
Efeito da idade no fenótipo em heterozigose para mutação nula no gene do receptor do hormônio liberador do GHEffect of age on phenotype in heterozygous null mutation on in receptor gene in GH hormone releasing receptor gene
(Universidade Federal de SergipePós-Graduação em Ciências da SaúdeBRUFS, 2017)
High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment
(FREUND PUBLISHING HOUSE LTD, 2008)
Data were retrospectively collected from 69 Brazilian patients (45 boys) with growth hormone deficiency (GHD) who received exogenous growth hormone (GH) for a median duration of 4 years (range 1-13 years). Forty-two patients ...