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Inheritable and sporadic non-autoimmune hyperthyroidism.
Ferraz C, Paschke R. Ferraz C, et al. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):265-275. doi: 10.1016/j.beem.2017.04.005. Epub 2017 Apr 22. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648513 Review.
Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in …
Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Acti …
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclère J. Hébrant A, et al. Eur J Endocrinol. 2011 Jan;164(1):1-9. doi: 10.1530/EJE-10-0775. Epub 2010 Oct 6. Eur J Endocrinol. 2011. PMID: 20926595 Review.
Three syndromes affecting the thyroid gland are described in the literature separately: familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas. Recent studies have shown that these three syndromes ar …
Three syndromes affecting the thyroid gland are described in the literature separately: familial nonautoimmune hyperthyroidism
The TSH receptor and its role in thyroid disease.
Kopp P. Kopp P. Cell Mol Life Sci. 2001 Aug;58(9):1301-22. doi: 10.1007/pl00000941. Cell Mol Life Sci. 2001. PMID: 11577986 Review.
In Graves' disease, the TSH receptor is the target of stimulating antibodies that cause hyperthyroidism. ...Trophoblast tumors secreting hCG are a rare cause of hyperthyroidism. Somatic activating mutations of the TSH receptor have …
In Graves' disease, the TSH receptor is the target of stimulating antibodies that cause hyperthyroidism. ...Trophoblast …
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.
Gozu HI, Lublinghoff J, Bircan R, Paschke R. Gozu HI, et al. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):125-34. doi: 10.1016/j.mce.2010.02.001. Epub 2010 Feb 6. Mol Cell Endocrinol. 2010. PMID: 20138963 Review.
TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH). ...Moreover, 14 subjects with sporadic non-autoimmune hype
TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hypert
Pathology of the TSH receptor.
Duprez L, Parma J, Van Sande J, Rodien P, Sabine C, Abramowicz M, Dumont JE, Vassart G. Duprez L, et al. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:295-302. J Pediatr Endocrinol Metab. 1999. PMID: 10698593 Review.
Gain of function and loss of function mutations of the TSH receptor have been implicated in the pathogenesis of various thyroid diseases. ...A subset of mutations modifying the receptor selectivity have recently been found to be involved in the …
Gain of function and loss of function mutations of the TSH receptor have been implicated in the pathogenesis of various …
Activating mutations of TSH receptor.
Rodien P, Ho SC, Vlaeminck V, Vassart G, Costagliola S. Rodien P, et al. Ann Endocrinol (Paris). 2003 Feb;64(1):12-6. Ann Endocrinol (Paris). 2003. PMID: 12707626 Review.
This hypothesis has been confirmed. Furthermore, the rare cases of familial non autoimmune hyperthyroidism have been shown to be caused by germline mutations of Thyrotropin receptor, as well as the cases of non autoimmune neonatal hyperthyroidism
This hypothesis has been confirmed. Furthermore, the rare cases of familial non autoimmune hyperthyroidism have been shown to …
Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia.
Leclère J, Béné MC, Aubert V, Klein M, Pascal-Vigneron V, Weryha G, Faure G. Leclère J, et al. Horm Res. 1997;47(4-6):158-62. doi: 10.1159/000185459. Horm Res. 1997. PMID: 9167947 Review.
Activating mutations of TSH-R have been described in toxic nodules and more recently in familial nonautoimmune thyrotoxicosis. This last entity is still confused with familial Graves' disease and the aim of this study is to define its phenotype. ...
Activating mutations of TSH-R have been described in toxic nodules and more recently in familial nonautoimmune thyrotox …
The TSH receptor and thyroid diseases.
Paschke R, Van Sande J, Parma J, Vassart G. Paschke R, et al. Baillieres Clin Endocrinol Metab. 1996 Jan;10(1):9-27. doi: 10.1016/s0950-351x(96)80266-7. Baillieres Clin Endocrinol Metab. 1996. PMID: 8734449 Review.
Moreover, these constitutively activating mutations also cause a new form of familial hyperthyroidism: non-autoimmune autosomal dominant hyperthyroidism and also sporadic cases of congenital non-autoimmune hyperthyroidism. TSH receptor
Moreover, these constitutively activating mutations also cause a new form of familial hyperthyroidism: non-autoimmune a …
Alterations of neonatal thyroid function.
Grüters A, Krude H, Biebermann H, Liesenkötter KP, Schöneberg T, Gudermann T. Grüters A, et al. Acta Paediatr Suppl. 1999 Feb;88(428):17-22. doi: 10.1111/j.1651-2227.1999.tb14346.x. Acta Paediatr Suppl. 1999. PMID: 10102047 Review.
Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different for …
Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients …
[From gene to disease; thyroid stimulating hormone receptor, hyperthyroidism and hypothyroidism].
Wiersinga WM. Wiersinga WM. Ned Tijdschr Geneeskd. 2001 May 5;145(18):869-71. Ned Tijdschr Geneeskd. 2001. PMID: 11379397 Review. Dutch.
Loss-of-function germline mutations occur preferentially in the hormone-binding extracellular domain of the TSH-R, resulting in familial TSH resistance. Gain-of-function germline mutations occur preferentially in the transmembrane domain of the …
Loss-of-function germline mutations occur preferentially in the hormone-binding extracellular domain of the TSH-R, resulting i …
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