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109 results

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Page 1
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N. Sykiotis GP, et al. Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15140-4. doi: 10.1073/pnas.1009622107. Epub 2010 Aug 9. Proc Natl Acad Sci U S A. 2010. PMID: 20696889 Free PMC article.
A genetic basis for functional hypothalamic amenorrhea.
Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF Jr, Martin KA, Hall JE, Pitteloud N. Caronia LM, et al. Among authors: sykiotis gp. N Engl J Med. 2011 Jan 20;364(3):215-25. doi: 10.1056/NEJMoa0911064. N Engl J Med. 2011. PMID: 21247312 Free PMC article.
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N. Avbelj Stefanija M, et al. Among authors: sykiotis gp. Hum Mol Genet. 2012 Oct 1;21(19):4314-24. doi: 10.1093/hmg/dds264. Epub 2012 Jul 5. Hum Mol Genet. 2012. PMID: 22773735 Free PMC article.
Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism.
Dwyer AA, Sykiotis GP, Hayes FJ, Boepple PA, Lee H, Loughlin KR, Dym M, Sluss PM, Crowley WF Jr, Pitteloud N. Dwyer AA, et al. Among authors: sykiotis gp. J Clin Endocrinol Metab. 2013 Nov;98(11):E1790-5. doi: 10.1210/jc.2013-2518. Epub 2013 Sep 13. J Clin Endocrinol Metab. 2013. PMID: 24037890 Free PMC article. Clinical Trial.
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J Jr, Niederländer NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JM, Plummer L, Albrecht U, Crowley WF Jr, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N. Xu C, et al. Among authors: sykiotis gp. EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376. EMBO Mol Med. 2017. PMID: 28754744 Free PMC article.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N. Villanueva C, et al. Among authors: sykiotis gp. Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25394172 Free PMC article.
Complex genetics in idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Durrani S, Raivio T, Sykiotis GP. Pitteloud N, et al. Among authors: sykiotis gp. Front Horm Res. 2010;39:142-153. doi: 10.1159/000312700. Epub 2010 Apr 8. Front Horm Res. 2010. PMID: 20389092 Review.
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bülow HE. Tornberg J, et al. Among authors: sykiotis gp. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11524-9. doi: 10.1073/pnas.1102284108. Epub 2011 Jun 23. Proc Natl Acad Sci U S A. 2011. PMID: 21700882 Free PMC article.
109 results