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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: phan hug f. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
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. Horm Res Paediatr. 2015;83(4):252-61. doi: 10.1159/000369392. Epub 2015 Feb 11. Horm Res Paediatr. 2015. PMID: 25676059 Free 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. 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.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly J, Messina A, Papadakis G, Cassatella D, Xu C, Acierno JS, Tata B, Sykiotis G, Santini S, Sidis Y, Elowe-Gruau E, Phan-Hug F, Hauschild M, Bouloux PM, Quinton R, Lang-Muritano M, Favre L, Marino L, Giacobini P, Dwyer AA, Niederländer NJ, Pitteloud N. Bouilly J, et al. Among authors: phan hug f. Hum Mol Genet. 2018 Jan 15;27(2):359-372. doi: 10.1093/hmg/ddx408. Hum Mol Genet. 2018. PMID: 29202173
TRANSITION IN ENDOCRINOLOGY: Hypogonadism in adolescence.
Dwyer AA, Phan-Hug F, Hauschild M, Elowe-Gruau E, Pitteloud N. Dwyer AA, et al. 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.
Accuracy, satisfaction and usability of a flash glucose monitoring system among children and adolescents with type 1 diabetes attending a summer camp.
Hansen EA, Klee P, Dirlewanger M, Bouthors T, Elowe-Gruau E, Stoppa-Vaucher S, Phan-Hug F, Antoniou MC, Pasquier J, Dwyer AA, Pitteloud N, Hauschild M. Hansen EA, et al. Among authors: phan hug f. Pediatr Diabetes. 2018 Nov;19(7):1276-1284. doi: 10.1111/pedi.12723. Epub 2018 Jul 31. Pediatr Diabetes. 2018. PMID: 30014625 Clinical Trial.
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
Antoniou MC, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, Sloot AV, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud N, Hauschild M. Antoniou MC, et al. Among authors: phan hug f. Ann Pediatr Endocrinol Metab. 2019 Mar;24(1):49-54. doi: 10.6065/apem.2019.24.1.49. Epub 2019 Mar 31. Ann Pediatr Endocrinol Metab. 2019. PMID: 30943680 Free PMC article.
23 results