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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
García M, Barrio R, García-Lavandeira M, Garcia-Rendueles AR, Escudero A, Díaz-Rodríguez E, Gorbenko Del Blanco D, Fernández A, de Rijke YB, Vallespín E, Nevado J, Lapunzina P, Matre V, Hinkle PM, Hokken-Koelega AC, de Miguel MP, Cameselle-Teijeiro JM, Nistal M, Alvarez CV, Moreno JC. García M, et al. Among authors: moreno jc. Sci Rep. 2017 Mar 6;7:42937. doi: 10.1038/srep42937. Sci Rep. 2017. PMID: 28262687 Free PMC article.
Central hypothyroidism in children.
García M, Fernández A, Moreno JC. García M, et al. Among authors: moreno jc. Endocr Dev. 2014;26:79-107. doi: 10.1159/000363157. Epub 2014 Aug 29. Endocr Dev. 2014. PMID: 25231446 Review.
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Villafuerte B, Natera-de-Benito D, González A, Mori MA, Palomares M, Nevado J, García-Miñaur S, Lapunzina P, González-Granado LI, Allende LM, Moreno JC. Villafuerte B, et al. Among authors: moreno jc. Eur J Med Genet. 2018 Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22. Eur J Med Genet. 2018. PMID: 29477862
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ. Moreno JC, et al. N Engl J Med. 2008 Apr 24;358(17):1811-8. doi: 10.1056/NEJMoa0706819. N Engl J Med. 2008. PMID: 18434651 Free article.
303 results