Publications

Lauffer P et al. Diagnosis and Management of Central Congenital Hypothyroidism.Front Endocrinol (Lausanne). 2021;12:686317.

Sugisawa C et al. Genetics of congenital isolated TSH deficiency: mutation screening of the known causative genes and a literature review.J Clin Endocrinol Metab. 2019;104(10):4509-4521. PMID: 31504637.

Tajima T et al. Recent advances in research on isolated congenital central hypothyroidism. Clin Pediatr Endocrinol. 2019;28(3):69-79. PMID: 31384098.

García M et al. Central hypothyroidism due to a TRHR mutation causing impaired ligand affinity and transactivation of Gq. J Clin Endocrinol Metab. 2017;102(7):2433-2442. PMID: 28419241.

Koulouri O et al. A novel thyrotropin-releasing hormone receptor missense mutation (P81R) in central congenital hypothyroidism.J Clin Endocrinol Metab. 2016;101(3):847-851. PMID: 26735259.

Brigante G et al. The TRHR gene is associated with hypothalamo-pituitary sensitivity to levothyroxine. Eur Thyroid J. 2014;3(2):101-108. PMID: 25114873.

Bonomi M et al. A family with complete resistance to thyrotropin-releasing hormone.N Engl J Med. 2009;360(7):731-734. PMID: 19213692.

Matre V et al. Structural and functional organization of the gene encoding the human thyrotropin-releasing hormone receptor. J Neurochem. 1999;73(4):1533-1542. PMID: 10501205.

Collu R et al. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.J Clin Endocrinol Metab. 1997;82(5):1561-1565. PMID: 9141550.

Iwasaki T et al. Genomic organization and promoter function of the human thyrotropin-releasing hormone receptor gene.J Biol Chem. 1996;271(15): 8871-8878. PMID: 8621523.

Yamada M et al. Assignment of human thyrotropin-releasing hormone receptor gene to chromosome 8.Somat Cell Mol Genet. 1993;19(2):159-165. PMID: 7684492.