Novel compound heterozygous Thyroglobulin mutations c. 745+ 1G> A/c. 7036+ 2T> A associated with congenital goiter and hypothyroidism in a Vietnamese family …
CE Citterio, CM Morales, N Bouhours-Nouet… - Molecular and Cellular …, 2015 - Elsevier
Several patients were identified with dyshormonogenesis caused by mutations in the
thyroglobulin (TG) gene. These defects are inherited in an autosomal recessive manner and …
thyroglobulin (TG) gene. These defects are inherited in an autosomal recessive manner and …
[HTML][HTML] Sequence similarity between thyroid self-protein and hepatitis C virus polyprotein: Possible triggering mechanism of autoimmune thyroiditis
MAC Sousa, R Paraná, LJO Andrade - Arquivos de gastroenterologia, 2016 - SciELO Brasil
Background-Exposure to viral antigens that share amino acid sequence similar with self-
antigens might trigger autoimmune diseases in genetically predisposed individuals, and the …
antigens might trigger autoimmune diseases in genetically predisposed individuals, and the …
Advances and perspectives in genetics of congenital thyroid disorders associated with thyroglobulin gene mutations
HM Targovnik, CE Citterio, S Siffo, CM Rivolta - 2016 - digitalcommons.chapman.edu
Dyshormonogenesis due to thyroglobulin (TG) gene mutations is a rare cause of congenital
hypothyroidism with an estimated incidence of approximately 1 in 100,000 newborns. The …
hypothyroidism with an estimated incidence of approximately 1 in 100,000 newborns. The …
Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia
MM Abelleyro, VD Marchione, M Palmitelli… - European Journal of …, 2019 - nature.com
Among other applications of long-distance haplotype phasing in clinical genetics,
determination of linked DNA markers as surrogate for problematic structural variants (eg …
determination of linked DNA markers as surrogate for problematic structural variants (eg …
Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review
S Liu, W Bai, Y Gao, C Shi, L Fan, J Chen… - Maternal-Fetal …, 2023 - mednexus.org
With the advances in fetal medicine, there will be more cases of congenital hypothyroidism
(CH) diagnosed in the fetal period. However, there is no consensus on the management …
(CH) diagnosed in the fetal period. However, there is no consensus on the management …
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism
HM Targovnik - Endocrine, 2014 - Springer
Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants, with the
prevalence ratio in the range of 1: 2,000–1: 4,000 newborns. It is characterized by elevated …
prevalence ratio in the range of 1: 2,000–1: 4,000 newborns. It is characterized by elevated …
Molecular determinants of congenital hypothyroidism due to thyroid dysgenesis
R Abu-Khudir - 2014 - papyrus.bib.umontreal.ca
Congenital hypothyroidism from thyroid dysgenesis (CHTD) is the most common congenital
endocrine disorder with an incidence of 1 in 4,000 live births. CHTD includes multiple …
endocrine disorder with an incidence of 1 in 4,000 live births. CHTD includes multiple …