This group includes all hereditary disorders that affect the thyroid hormon system. Disturbances affecting secretion, regulation, and action may be distinguished.
1. |
Mamanasiri S et al. (2006) Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. |
2. |
Weiss RE et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. |
3. |
Hauser P et al. (1993) Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. |
4. |
Refetoff S et al. (1993) The syndromes of resistance to thyroid hormone. |
5. |
Maxon HR et al. (1980) Euthyroid, familial hyperthyroxinemia. |
6. |
Brooks MH et al. (1981) Familial thyroid hormone resistance. |
7. |
Refetoff S et al. (1980) Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. |
8. |
Ohzeki T et al. (1984) Thyroid hormone unresponsiveness in two siblings with intrauterine growth retardation exophthalmos. |
9. |
Bantle JP et al. (1982) Resistance to thyroid hormones. A disorder frequently confused with Graves' disease. |
10. |
None (1982) Syndromes of thyroid hormone resistance. |
11. |
Elewaut A et al. (1976) Familial partial target organ resistance to thyroid hormones. |
12. |
Bode HH et al. (1973) Partial target organ resistance to thyroid hormone. |
13. |
None (1973) Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones. |
14. |
Hopwood NJ et al. (1986) Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis? |
15. |
None (1985) Thyroid hormone action at the nuclear level. |
16. |
Gharib H et al. (1985) Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. |
17. |
Usala SJ et al. (1988) Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. |
18. |
Charles MA et al. (1975) Nuclear receptors for thyroid hormone: evidence for nonrandom distribution within chromatin. |
19. |
Pohlenz J et al. (1999) Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. |
21. |
Sakurai A et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. |
22. |
Usala SJ et al. (1990) A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. |
24. |
Usala SJ et al. (1991) A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. |
25. |
Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. |
26. |
OMIM.ORG article Omim 188570 |