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Page 1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Miraoui H, et al. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008. Am J Hum Genet. 2013. PMID: 23643382 Free PMC article.
Kisspeptin and clinical disorders.
Silveira LG, Latronico AC, Seminara SB. Silveira LG, et al. Adv Exp Med Biol. 2013;784:187-99. doi: 10.1007/978-1-4614-6199-9_9. Adv Exp Med Biol. 2013. PMID: 23550007 Free PMC article. Review.
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley WF Jr, Amory JK, Pitteloud N, Seminara SB. Chan YM, et al. Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11703-8. doi: 10.1073/pnas.0903449106. Epub 2009 Jun 30. Proc Natl Acad Sci U S A. 2009. PMID: 19567835 Free PMC article.
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.
Beneduzzi D, Trarbach EB, Min L, Jorge AA, Garmes HM, Renk AC, Fichna M, Fichna P, Arantes KA, Costa EM, Zhang A, Adeola O, Wen J, Carroll RS, Mendonça BB, Kaiser UB, Latronico AC, Silveira LF. Beneduzzi D, et al. Fertil Steril. 2014 Sep;102(3):838-846.e2. doi: 10.1016/j.fertnstert.2014.05.044. Epub 2014 Jul 10. Fertil Steril. 2014. PMID: 25016926 Free PMC article.
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB. Chan YM, et al. J Clin Endocrinol Metab. 2011 Nov;96(11):E1771-81. doi: 10.1210/jc.2011-0518. Epub 2011 Aug 31. J Clin Endocrinol Metab. 2011. PMID: 21880801 Free PMC article.
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Choi JH, et al. J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24. J Clin Endocrinol Metab. 2015. PMID: 26207952 Free PMC article.
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. Macedo DB, et al. J Clin Endocrinol Metab. 2014 Jun;99(6):E1097-103. doi: 10.1210/jc.2013-3126. Epub 2014 Mar 14. J Clin Endocrinol Metab. 2014. PMID: 24628548 Free PMC article.