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Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands
(Wiley Blackwell Publishing, Inc, 2008-05)
Context: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode. Objectives: The ...
Avaliação ultrassonográfica de crianças com hipotireoidismo congênitoSonographic evaluation of children with congenital hypothyroidism
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2015)
Aspectos genéticos do hipotireoidismo congênito
(Sociedade Brasileira de Endocrinologia e Metabologia, 2004-02-01)
Hipotireoidismo congênito (HC) afeta cerca de 1:3000 a 1:4000 recém-nascidos (RN). Numerosos genes são essenciais, tanto para o desenvolvimento normal do eixo hipotálamo-hipófise-tireóide quanto para a produção hormonal, ...
Aspectos genéticos do hipotireoidismo congênito
(Sociedade Brasileira de Endocrinologia e Metabologia, 2004-02-01)
Hipotireoidismo congênito (HC) afeta cerca de 1:3000 a 1:4000 recém-nascidos (RN). Numerosos genes são essenciais, tanto para o desenvolvimento normal do eixo hipotálamo-hipófise-tireóide quanto para a produção hormonal, ...
Cognitive profiles of patients with early detected and treated congenital hypothyroidism
(Sociedad Argentina de Pediatría, 2017)
Abstract: Introduction: Children with congenital hypothyroidism (CH) detected by newborn screening and adequately treated may have mild cognitive deficits. Objectives: To assess the intelligence quotient of children with ...
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation
(Endocrine Society, 2009-08-01)
Context: Thyroglobulin (TG) is a large glycoprotein and functions as a matrix for thyroid hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) with considerable phenotype variation. ...
A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism
(Wiley Blackwell Publishing, Inc, 2011-04)
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect
(Veterinary and Human Toxicology, 2003-12)
Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine. We analyzed the TPO gene in 14 unrelated patients ...
Perfil epidemiológico clínico del paciente con hipotiroidismo congénito en el Hospital Vicente Corral Moscoso, 2012 - 2016
(Universidad de Cuenca, 2020-03-06)
Background: congenital hypothyroidism represents the main cause of preventable intellectual disability, it must be diagnosed before 6 weeks of life, through neonatal screening that is currently performed in our country ...
Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador
(2021)
The newborn screening program in Ecuador has been operating since 2011 under the responsibility of the Ministry of Health. This program is centralized and diagnoses four diseases: congenital hypothyroidism, phenylketonuria, ...