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Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
(Brasil, 2012)
Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with ...
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defectMutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11)
The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal ...
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms
(BioScientifica, 2007-10-01)
Thyroglobulin (TG) functions as the matrix for thyroid hormone synthesis. Thirty-five different loss-of-function mutations in the TG gene have been reported. These mutations are transmitted in an autosomal recessive mode. ...
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism: Characterization of complex cryptic splice sites by minigene analysis
(Elsevier Ireland, 2016-01)
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and ...
Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6
(Elsevier Ireland, 2015-03)
Several patients were identified with dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. These defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or ...
Repercussões do hipotireoidismo gestacional e perinatal experimental na função auditiva da prole de ratasRepercussions of gestational and perinatal experimental hypotioidism in hearing function of offspring rat
(Pós-Graduação em Ciências da SaúdeUniversidade Federal de Sergipe, 2018)
A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation
(Endocrine Society, 2005-06)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and ...
Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
(SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIARIO DE JANEIRO, RJ, 2013-08-02)
Objectives: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. Subjects and methods: Patients underwent ultrasound, thyroid scan, ...