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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: van vliet g. 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.
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Raivio T, et al. Among authors: van vliet g. J Clin Endocrinol Metab. 2009 Nov;94(11):4380-90. doi: 10.1210/jc.2009-0179. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820032 Free PMC article.
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: van vliet g, van uum s. 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.
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N. Cole LW, et al. Among authors: van vliet g. J Clin Endocrinol Metab. 2008 Sep;93(9):3551-9. doi: 10.1210/jc.2007-2654. Epub 2008 Jun 17. J Clin Endocrinol Metab. 2008. PMID: 18559922 Free PMC article.
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Raivio T, et al. Among authors: van vliet g. Endocr Rev. 2009 Dec 1;30(7):934. doi: 10.1210/edrv.30.7.9981. Endocr Rev. 2009. PMID: 28199515 No abstract available.
Congenital hypothyroidism and cystic fibrosis.
Depasse C, Chanoine JP, Casimir G, Van Vliet G. Depasse C, et al. Among authors: van vliet g. 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: van vliet g. 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
217 results