Results 181 to 190 of about 42,240 (230)
Endocrine manifestations of Luscan-Lumish syndrome associated with a novel SETD2 frameshift variant. [PDF]
JCEM Case RepHuang J, Ashouri D, Dominguez AL.
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
The Syndromes of Resistance to Thyroid Hormone.
Endocrine Reviews, 1993I. Introduction THE syndromes of resistance to thyroid hormone are characterized by reduced clinical and biochemical manifestations of thyroid hormone action relative to the circulating hormone levels. In practice, most patients are identified by the persistent elevation of serum levels of T4 and T3 with “inappropriately” nonsuppressed TSH, in the ...
Samuel Refetoff +2 more
exaly +4 more sources
Thyroid hormone resistance syndromes
The American Journal of Medicine, 1993The thyroid hormone resistance syndromes are disorders in which the body's tissues are resistant to the effects of thyroid hormone. Generalized resistance to thyroid hormone (GRTH) is characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.
M T, McDermott, E C, Ridgway
openaire +2 more sources
Syndromes of thyroid hormone resistance
Annales d'Endocrinologie, 2005Thyroid hormone resistance (RTH) is a rare autosomal dominant disorder, characterized clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in the presence of measurable serum TSH concentrations. About 85% of patients with RTH are harboring mutations in thyroid hormone receptor beta (TRB). These mutations cluster in
P. Beck-Peccoz, D. Mannavola, L.Persani
openaire +3 more sources
Thyroid hormone resistance syndromes
Trends in Endocrinology & Metabolism, 1991Abstract The gene for generalized thyroid hormone resistance has been mapped to the c- erb Aβ thyroid hormone receptor on chromosome 3 in multiple kindreds. Different mutations have been identified in the triiodothyronine (T 3 )-binding domain of c- erb Aβ and result in variable changes in T 3 binding affinity.
Stephen J. Usala, Bruce D. Weintraub
openaire +1 more source
Cardiac complications of thyroid hormone resistance syndromes
Annales d'Endocrinologie, 2021Thyroid hormones exert their action by binding to their thyroid hormone receptors among other mechanisms. They are involved in different cardiac functions, including contractility and rhythm. The mutation of thyroid hormone receptor β is the main cause of thyroid hormone resistance.
Frédéric, Illouz +6 more
openaire +2 more sources
Thyroid Hormone Resistance Syndromes
2019Syndromes with impaired sensitivity to thyroid hormone (TH) include three types of resistance to thyroid hormone (RTH) syndromes (RTHβ, RTHα, and nonTR-RTH) and also include patients with defects in TH transport into cells (thyroid hormone cell membrane transport defect, THCMTD) and defects in TH metabolism (thyroid hormone metabolism defect, THMD ...
Samuel Refetoff, Roy E. Weiss
exaly +2 more sources