|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Seventy-one (71) children and adolescents, with a mean age of 11.3 ± 0.3 years (range 4.5-17.8), diagnosed with AT (antibodies against thyroid peroxidase [anti-TPO] and/or thyroglobulin [anti-Tg] ≥60 IU/mL, euthyroidism or treated hypothyroidism and goitre in thyroid gland ultrasonography) were randomized to receive 200 μg l-selenomethionine or placebo daily for 6 months.
|
30306604 |
2019 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Thyroid volume and goiter appear to be more sensitive indicators of thyroid stress than thyrotropin and Tg in children with long-term excess iodine intakes.
|
29722836 |
2018 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
|
29275168 |
2018 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Nivolumab-induced immune thrombocytopenia and hypothyroidism were suspected based on the presence of platelet-associated IgG, an increased level of autoantibodies to thyroglobulin and thyroid peroxidase and an enlarged thyroid gland.
|
29260625 |
2018 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A 3-week old girl presented with a large goiter, serum TSH > 100 mIU/L (reference range: 0.7-5.9 mIU/L); free T<sub>4</sub> < 3.2 pmol/L (reference range: 8.7-16 pmol/L); thyroglobulin (TG) 101 μg/L.
|
29720101 |
2018 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.
|
24582622 |
2014 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Recently, a role for adenosine A2a receptor (A2aR) in goiter formation was reported in the thyroglobulin-A2aR transgenic mice.
|
24080368 |
2013 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
|
23164529 |
2013 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
|
23457313 |
2013 |
|
Goiter
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
We report a French patient with congenital hypothyroidism, mild enlarged thyroid gland and low levels of serum TG.
|
21958696 |
2012 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We describe the clinical, biochemical, and molecular findings of a cohort of Argentinean patients with congenital hypothyroidism (CH) and goiter studied to characterize iodide organification and thyroglobulin (TG) defects.
|
20972728 |
2010 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In summary, a molecularly confirmed PS patient showed goiter progression accompanied by elevated serum thyroglobulin and increased thyroidal iodine uptake, but normal serum TSH levels and normal iodine organification.
|
20583162 |
2010 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The shorter thyroglobulin resulting from the novel g.IVS35+1delG was retained within the endoplasmic reticulum of thyrocytes, and together with p.R227X caused severe hypothyroidism with goiter. p.R277X, the most commonly described TG mutation, is caused by a TG exon-7 highly mutation-prone region, and the possibility that some cases were introduced to South America from Galicia cannot be excluded.
|
20410234 |
2010 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T(4) and low, normal or high serum T(3).
|
20093166 |
2010 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
The objective of this study is to analyze the recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the TG gene in two unrelated families (one Argentinian and another Brazilian) with congenital hypothyroidism, goiter and impairment of TG synthesis.
|
17911408 |
2007 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Disruption of the RAP gene in mice results in a reduced Tg content within the colloid, leading to subclinical hypothyroidism and histological alterations resembling early goiter.
|
18075286 |
2007 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
From these observations, we conclude that goiter resulting from thyroglobulin mutations is associated with thyroid cancer.
|
16187918 |
2005 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Biallelic mutations in the Tg gene have been identified in several animal species and human patients presenting with goiter and overt or compensated hypothyroidism.
|
16187910 |
2005 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Low serum thyroglobulin in the proband and his older brother and parental consanguinity was mostly compatible with a thyroglobulin defective synthesis and secretion as the cause of CH and fetal goiter.
|
16405406 |
2005 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
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.
|
15769978 |
2005 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The serum thyroglobulin (Tg) concentration was low (0.8 ng/ml), whereas ultrasound of the neonate indicated an enlarged thyroid gland (32/15/14 mm).
|
12915634 |
2003 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Physical activity in leisure time was negatively associated with thyroid enlargement (p = 0.02) and serum thyroglobulin (p < 0.001).
|
12733841 |
2003 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
15.5% (11/71) were hypothyroid, 17 (23.9%) were positive for thyroid peroxidase (TPO) and/or thyroglobulin (Tg) antibodies, and 24 (33.8%) had thyromegaly.
|
10776989 |
2000 |
|
Goiter
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
This type of hypothyroidism is characterized by intact iodide trapping, normal organification of iodide, and usually low serum Tg levels in relation to high TSH, and when untreated the patients develop goiter.
|
10404833 |
1999 |
|
Goiter
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
This point mutation is removed from the majority of Tg mRNA transcripts by the preferential generation in the goiter of a 171 nt deleted Tg mRNA by alternative splicing.
|
9588493 |
1998 |