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References

These sources were used to develop the Genetics Home Reference gene summary on the TSHR gene.

Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest. 1997 Jun 15;99(12):3018-24. PubMed citation
Arturi F, Scarpelli D, Coco A, Sacco R, Bruno R, Filetti S, Russo D. Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions. Thyroid. 2003 Apr;13(4):341-3. Review. PubMed citation
Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. 1997 Oct;82(10):3471-80. PubMed citation
Clifton-Bligh RJ, Gregory JW, Ludgate M, John R, Persani L, Asteria C, Beck-Peccoz P, Chatterjee VK. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab. 1997 Apr;82(4):1094-100. PubMed citation
Davies TF, Ando T, Lin RY, Tomer Y, Latif R. Thyrotropin receptor-associated diseases: from adenomata to Graves disease. J Clin Invest. 2005 Aug;115(8):1972-83. Review. PubMed citation
Entrez Gene
Gozu H, Avsar M, Bircan R, Sahin S, Ahiskanali R, Gulluoglu B, Deyneli O, Ones T, Narin Y, Akalin S, Cirakoglu B. Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma? Thyroid. 2004 Nov;14(11):975-80. PubMed citation
Kopp P. The TSH receptor and its role in thyroid disease. Cell Mol Life Sci. 2001 Aug;58(9):1301-22. Review. PubMed citation
OMIM: THYROID-STIMULATING HORMONE RECEPTOR
Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. Review. PubMed citation
Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature. 1993 Oct 14;365(6447):649-51. PubMed citation
Paschke R, Ludgate M. The thyrotropin receptor in thyroid diseases. N Engl J Med. 1997 Dec 4;337(23):1675-81. Review. PubMed citation
Refetoff S. Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug;26(8):770-9. Review. PubMed citation
Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 Jan 19;332(3):155-60. PubMed citation