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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. Among authors: chanoine jp. 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.
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. Among authors: chanoine jp. 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.
Congenital hypothyroidism and cystic fibrosis.
Depasse C, Chanoine JP, Casimir G, Van Vliet G. Depasse C, et al. Among authors: chanoine jp. Acta Paediatr Scand. 1991 Oct;80(10):981-3. doi: 10.1111/j.1651-2227.1991.tb11768.x. Acta Paediatr Scand. 1991. PMID: 1755312
Thyroid function from birth to adolescence in Prader-Willi syndrome.
Sharkia M, Michaud S, Berthier MT, Giguère Y, Stewart L, Deladoëy J, Deal C, Van Vliet G, Chanoine JP. Sharkia M, et al. Among authors: chanoine jp. J Pediatr. 2013 Sep;163(3):800-5. doi: 10.1016/j.jpeds.2013.03.058. Epub 2013 Apr 25. J Pediatr. 2013. PMID: 23623517
Experience With Store-and-Forward Consultations in Providing Access to Pediatric Endocrine Consultations in Low- and Middle-Income Countries.
von Oettingen JE, Craven M, Duperval R, Sine St Surin F, Eveillard R, Saint Fleur R, Van Vliet G, Chanoine JP, Louis R. von Oettingen JE, et al. Among authors: chanoine jp. Front Public Health. 2019 Sep 25;7:272. doi: 10.3389/fpubh.2019.00272. eCollection 2019. Front Public Health. 2019. PMID: 31612126 Free PMC article.
149 results