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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J, Känsäkoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge EJ, Tang C, Yuan L, Fagerholm R, Kanters JK, Lahermo P, Kaunisto M, Keski-Filppula R, Vuoristo S, Pulli K, Ebeling T, Valanne L, Sankila EM, Kivirikko S, Lääperi M, Casoni F, Giacobini P, Phan-Hug F, Buki T, Tena-Sempere M, Pitteloud N, Veijola R, Lipsanen-Nyman M, Kaunisto K, Mollard P, Andoniadou CL, Hirsch JA, Varjosalo M, Jespersen T, Raivio T. Tommiska J, et al. Among authors: pitteloud n. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N. Raivio T, et al. Among authors: pitteloud n. J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8. J Clin Endocrinol Metab. 2012. PMID: 22319038 Free PMC article. Clinical Trial.
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: pitteloud n. 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.
Gonadotrophin replacement for induction of fertility in hypogonadal men.
Dwyer AA, Raivio T, Pitteloud N. Dwyer AA, et al. Among authors: pitteloud n. Best Pract Res Clin Endocrinol Metab. 2015 Jan;29(1):91-103. doi: 10.1016/j.beem.2014.10.005. Epub 2014 Oct 27. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25617175 Review.
TRANSITION IN ENDOCRINOLOGY: Hypogonadism in adolescence.
Dwyer AA, Phan-Hug F, Hauschild M, Elowe-Gruau E, Pitteloud N. Dwyer AA, et al. Among authors: pitteloud n. Eur J Endocrinol. 2015 Jul;173(1):R15-24. doi: 10.1530/EJE-14-0947. Epub 2015 Feb 4. Eur J Endocrinol. 2015. PMID: 25653257 Review.
Natural history of growth hormone deficiency in a pediatric cohort.
Deillon E, Hauschild M, Faouzi M, Stoppa-Vaucher S, Elowe-Gruau E, Dwyer A, Theintz GE, Dubuis JM, Mullis PE, Pitteloud N, Phan-Hug F. Deillon E, et al. Among authors: pitteloud n. Horm Res Paediatr. 2015;83(4):252-61. doi: 10.1159/000369392. Epub 2015 Feb 11. Horm Res Paediatr. 2015. PMID: 25676059 Free article.
Gonadotropin-releasing hormone receptor mutations in ageing men.
Tommiska J, Känsäkoski J, Pitteloud N, Wu F, Raivio T. Tommiska J, et al. Among authors: pitteloud n. Clin Endocrinol (Oxf). 2016 Jan;84(1):150-1. doi: 10.1111/cen.12833. Epub 2015 Jul 1. Clin Endocrinol (Oxf). 2016. PMID: 26044071 No abstract available.
148 results