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205 results

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Page 1
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: bouloux p. 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.
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr. Pitteloud N, et al. Among authors: bouloux p. Mol Cell Endocrinol. 2006 Jul 25;254-255:60-9. doi: 10.1016/j.mce.2006.04.021. Epub 2006 Jun 9. Mol Cell Endocrinol. 2006. PMID: 16764984
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W. Pitteloud N, et al. Among authors: bouloux p. J Clin Invest. 2007 Feb;117(2):457-63. doi: 10.1172/JCI29884. Epub 2007 Jan 18. J Clin Invest. 2007. PMID: 17235395 Free PMC article.
Hypogonadotropic hypogonadism.
Silveira LF, MacColl GS, Bouloux PM. Silveira LF, et al. Semin Reprod Med. 2002 Nov;20(4):327-38. doi: 10.1055/s-2002-36707. Semin Reprod Med. 2002. PMID: 12536356 Review.
A Comparison of the Blood Glucose, Growth Hormone, and Cortisol Responses to Two Doses of Insulin (0.15 U/kg vs. 0.10 U/kg) in the Insulin Tolerance Test: A Single-Centre Audit of 174 Cases.
Yeoh P, Dwyer AA, Anghel E, Bouloux PM, Khoo B, Chew S, Wernig F, Carroll P, Aylwin SJB, Baldeweg SE, Drake W, Todd J, Mangena L, Grossman A. Yeoh P, et al. Among authors: bouloux pm. Int J Endocrinol. 2022 Feb 8;2022:7360282. doi: 10.1155/2022/7360282. eCollection 2022. Int J Endocrinol. 2022. PMID: 35465075 Free PMC article.
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT. Turton JP, et al. Among authors: bouloux pm. Clin Endocrinol (Oxf). 2005 Jul;63(1):10-8. doi: 10.1111/j.1365-2265.2005.02291.x. Clin Endocrinol (Oxf). 2005. PMID: 15963055
Kallmann syndrome: adhesion, afferents, and anosmia.
MacColl G, Bouloux P, Quinton R. MacColl G, et al. Among authors: bouloux p. Neuron. 2002 May 30;34(5):675-8. doi: 10.1016/s0896-6273(02)00720-1. Neuron. 2002. PMID: 12062015 Free article. Review.
205 results