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congenital hyperthyroidism

Known as: hyperthyroidism congenital 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1956-2017
024619562016

Papers overview

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2006
2006
Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient.
Constitutively activating thyrotropin receptor (TSHR) germline mutations have been identified as a molecular cause of congenital… (More)
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2000
2000
Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene.
The de novo occurrence of germline-activating thyrotropin receptor (TSHR) gene mutations has been reported as the cause of… (More)
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1999
1999
Congenital hyperthyroidism: autopsy report.
We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose… (More)
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1998
1998
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Gain of function mutations in the TSH receptor (TSHR) have been identified as the molecular basis for congenital and acquired… (More)
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1997
1997
Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor.
Activating somatic mutations in the thyrotropin (TSH) receptor have been identified as a cause of hyperfunctioning thyroid… (More)
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1997
1997
Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene.
Congenital hyperthyroidism is usually caused by maternal-to-fetal transfer of thyroid-stimulating antibodies from a mother with… (More)
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1997
1997
Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.
Neonatal hyperthyroidism in the absence of maternal autoimmune thyroid disease and without thyroid-stimulating antibodies in the… (More)
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1997
1997
Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism.
Congenital hyperthyroidism is a rare, transient disease usually caused by transmission of thyrotropin receptor autoantibodies… (More)
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1996
1996
Mutations of the TSH receptor as cause of congenital hyperthyroidism.
4 patients of two families with congenital persistent hyperthyroidism without detectable autoantibodies are reported. The members… (More)
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1983
1983
Delayed cerebral development in twins with congenital hyperthyroidism.
Twins had congenital hyperthyroidism and delayed cerebral development manifested as ventriculomegaly, increased space in the… (More)
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