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Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL Jr, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF Jr, Seminara SB, Mellon PL, Balasubramanian R. Cassin J, et al. Among authors: georgopoulos na. JCI Insight. 2023 Feb 8;8(3):e164324. doi: 10.1172/jci.insight.164324. JCI Insight. 2023. PMID: 36602867 Free PMC article.
The gonadotropin-releasing hormone (GnRH)-1 gene, the GnRH receptor gene, and their promoters in patients with idiopathic hypogonadotropic hypogonadism with or without resistance to GnRH action.
Vagenakis GA, Sgourou A, Papachatzopoulou A, Kourounis G, Papavassiliou AG, Georgopoulos NA. Vagenakis GA, et al. Among authors: georgopoulos na. Fertil Steril. 2005 Dec;84(6):1762-5. doi: 10.1016/j.fertnstert.2005.06.031. Fertil Steril. 2005. PMID: 16359986 Free article.
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Koika V, Varnavas P, Valavani H, Sidis Y, Plummer L, Dwyer A, Quinton R, Kanaka-Gantenbein C, Pitteloud N, Sertedaki A, Dacou-Voutetakis C, Georgopoulos NA. Koika V, et al. Among authors: georgopoulos na. Gene. 2013 Mar 1;516(1):146-51. doi: 10.1016/j.gene.2012.12.041. Epub 2012 Dec 28. Gene. 2013. PMID: 23276709
A novel FGF8 mutation in a female patient with isolated congenital anosmia.
Stamou MI, Plummer L, Koika V, Galli-Tsinopoulou A, Georgopoulos NA. Stamou MI, et al. Among authors: georgopoulos na. Hormones (Athens). 2019 Jun;18(2):241-244. doi: 10.1007/s42000-019-00108-6. Epub 2019 May 13. Hormones (Athens). 2019. PMID: 31087283 Free PMC article. No abstract available.
122 results