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Activating GNAS1 gene mutations in patients with premature thelarche
(2004)
Objective To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions ...
A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010)
The objective of this study was to describe a new mutation in GNAS in a family with pseudohypoparathyroidism type Ia (PHP Ia), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to obesity ...
A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type la and normal serum calcium and phosphate levels
(SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, 2010)
The objective of this study was to describe a new mutation in GNAS in a family with pseudohypoparathyroidism type la (PHP la), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to obesity ...
Premature thelarche from phenotype to genotype
(2008)
Premature thelarche is a benign condition, which has been described as a "variant of puberty". Early breast development is especially prevalent during the first year of life, when the gonadal axis is usually active. ...
Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
(2013)
Pseudohypoparathyroidism type Ia (PHP Ia) is a rare disease characterized by an elevated parathyroid hormone due to the resistance to its action in target tissues. We report a new GNAS mutation causing PHP Ia and an atypical ...
Expressão de AMP-proteína quinase ativada (pAMPK) em adenomas hipofisários removidos cirurgicamente de pacientes com acromegalia
(Universidade Federal de Minas GeraisBrasilICB - INSTITUTO DE CIÊNCIAS BIOLOGICASPrograma de Pós-Graduação em NeurociênciasUFMG, 2021-04-05)
Introduction: AMPK (AMP-activated protein kinase) is an enzyme that acts as a metabolic sensor by changing the ATP / AMP ratio and is related to the modulation of cell proliferation. The aim of this work was to study the ...
CONSERVAÇÃO E QUALIDADE DE MIRTILO ORGÂNICO UTILIZANDO REVESTIMENTO COMESTÍVEL A BASE DE FÉCULA DE MANDIOCA
(Universidade Tecnológica Federal do Paraná (UTFPR), 2012)
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology
(De Gruyter, 2017)
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type ...