A family with complete resistance to thyrotropi... [N Engl J Med. 2009] - PubMed

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A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. [J Clin Endocrinol Metab. 1997]
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.
Collu R, Tang J, Castagné J, Lagacé G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, et al. J Clin Endocrinol Metab. 1997 May; 82(5):1561-5.
Review [Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene]. [Nihon Rinsho. 2002]
Review [Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene].
Yamada M, Mori M. Nihon Rinsho. 2002 Feb; 60(2):277-83.
Generation of thyrotropin-releasing hormone receptor 1-deficient mice as an animal model of central hypothyroidism. [Mol Endocrinol. 2004]
Generation of thyrotropin-releasing hormone receptor 1-deficient mice as an animal model of central hypothyroidism.
Rabeler R, Mittag J, Geffers L, Rüther U, Leitges M, Parlow AF, Visser TJ, Bauer K. Mol Endocrinol. 2004 Jun; 18(6):1450-60. Epub 2004 Feb 26.
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene. [Thyroid. 2004]
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
Richter-Unruh A, Hauffa BP, Pfarr N, Pohlenz J. Thyroid. 2004 Nov; 14(11):971-4.
Review Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis. [Best Pract Res Clin Endocrinol...]
Review Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P, Persani L, Calebiro D, Bonomi M, Mannavola D, Campi I. Best Pract Res Clin Endocrinol Metab. 2006 Dec; 20(4):529-46.

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Cited by 1 PubMed Central article

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene. [Case Rep Pediatr. 2011]
Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.
Grünert SC, Schmidts M, Pohlenz J, Kopp MV, Uhl M, Schwab KO. Case Rep Pediatr. 2011; 2011:369871. Epub 2011 Dec 21.

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