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Genetic Mutations in the GH/IGF Axis
(Medical Media, 2018-09)
The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production, secretion, and action of GH and IGFs. Molecular defects of the ...
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) [...]
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
(WILEY-BLACKWELL PUBLISHING, INC, 2009)
Growth hormone (GH) influences bone mass maintenance. However, the consequences of lifetime isolated GH deficiency (IGHD) on bone are not well established. We assessed the bone status and the effect of 6 months of GH ...
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 ...
Avaliação retiniana em adultos com deficiência isolada, congênita e vitalícia de hormônio do crescimento
(Universidade Federal de SergipePós-Graduação em Ciências da SaúdeBrasilUFS, 2017)
Lifetime congenital isolated GH deficiency does not protect from the development of diabetes
(Bioscientifica, 2016)
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 ...
Qualidade de vida na deficiência isolada e genética do hormônio de crescimento (GH). Efeitos da terapia de reposição com o GH
(Universidade Federal de SergipePós-Graduação em Ciências da SaúdeBRUFS, 2017)
Consumo alimentar e necessidade energética estimados na deficiência isolada e genética do hormônio de crescimentoFood intake and energy needs estimated in isolated deficiency and genetic growth hormone
(Universidade Federal de SergipePós-Graduação em Ciências da SaúdeBRUFS, 2017)