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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB. Lippincott MF, et al. Among authors: georgopoulos na. Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. Epub 2022 Sep 30. Genet Med. 2022. PMID: 36178483 Free PMC 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.
129 results