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Mecanismos protectores de la insensibilidad a hormona de crecimiento (síndrome de Laron) contra cáncer y diabetes mellitusProtective mechanisms of insensitivity to growth hormone (Laron syndrome) against cancer and diabetes mellitus
(Editorial Ciencia digital Registrada en la Cámara Ecuatoriana del Libro No Afiliación 663 (Editor DrC. Efraín Velasteguí López. PhD.), 2022)
Influencia de la mecasermina como tratamiento en pacientes con síndrome de Laron en Ecuador
(Universidad de Guayaquil. Facultad de Ciencias Químicas, 2021)
El síndrome de Laron (SL) es un desorden genético caracterizada por una marcada baja estatura, esta patología es tratada mediante el adecuado uso del fármaco Mecasermina, siendo este un factor de crecimiento insulínico ...
The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from the Iberian Peninsula to the New World?
(Wiley, 2014)
Laron syndrome(LS) is a genetic disorder caused by mutations in
the growth hormone receptor (GHR) gene. The most frequent
GHR mutation is E180splice (rs121909360), which was initially
found in an inbred population of ...
Investigação de baixa estatura: aspectos clínicos, laboratoriais e moleculares da insensibilidade ao hormônio de crescimento
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Neste artigo são descritos os aspectos clínicos, laboratoriais e genéticos da investigação da baixa estatura, dando ênfase para o diagnóstico da insensibilidade ao hormônio de crescimento (IGH). O paciente apresentado ...
Study of GH sensitivity in Chilean patients with idiopathic short stature
(ENDOCRINE SOC, 2001)
We hypothesized that some children with idiopathic short stature in Chile might bear heterozygous mutations of the GH receptor. We selected 26 patients (3 females, 23 males) from 112 patients who consulted for idiopathic ...
Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
BACKGROUND: To date, about sixty different mutations within GH receptor (GHR) gene have been described in patients with GH insensitivity syndrome (GHI). In this report, we described a novel nonsense mutation of GHR. METHODS: ...
Same Phenotype in Children with Growth Hormone Deficiency and Resistance
(Hindawi Publishing Corporation, 2018-04)
By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the ...
Serum IGF-1 is insufficient to restore skeletal size in the total absence of the growth hormone receptor
(Wiley, 2013-07)
States of growth hormone (GH) resistance, such those observed in Laron dwarf patients, are characterized by mutations in the GH receptor (GHR), decreased serum and tissue IGF-1 levels, impaired glucose tolerance, and ...
Turner Syndrome: The Patients's View
(, 2004)