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Page 1
Genetic testing in patients with obesity.
Phan-Hug F, Beckmann JS, Jacquemont S. Phan-Hug F, et al. Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):133-43. doi: 10.1016/j.beem.2011.11.010. Best Pract Res Clin Endocrinol Metab. 2012. PMID: 22498244 Review.
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux PM, Geyter C, Paepe A, Dhillo WS, Ferrara JM, Hauschild M, Lang-Muritano M, Lemke JR, Flück C, Nemeth A, Phan-Hug F, Pignatelli D, Popovic V, Pekic S, Quinton R, Szinnai G, l'Allemand D, Konrad D, Sharif S, Iyidir ÖT, Stevenson BJ, Yang H, Dunkel L, Pitteloud N. Cassatella D, et al. Among authors: phan hug f. Eur J Endocrinol. 2018 Apr;178(4):377-388. doi: 10.1530/EJE-17-0568. Epub 2018 Feb 1. Eur J Endocrinol. 2018. PMID: 29419413 Free PMC article.
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.
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.
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
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
COST Action BM1105; Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. COST Action BM1105, et al. Among authors: phan hug f. Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2. Orphanet J Rare Dis. 2017. PMID: 28320476 Free PMC 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.
24 results