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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Boehm U, et al. Among authors: young j. Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Nat Rev Endocrinol. 2015. PMID: 26194704 Review.
Xp22.3 deletions in isolated familial Kallmann's syndrome.
Hardelin JP, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, Bouloux P, Petit C, Schaison G. Hardelin JP, et al. Among authors: young j. J Clin Endocrinol Metab. 1993 Apr;76(4):827-31. doi: 10.1210/jcem.76.4.8473391. J Clin Endocrinol Metab. 1993. PMID: 8473391
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Dodé C, et al. Among authors: young j. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J, Pêcheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dodé C. Albuisson J, et al. Among authors: young j. Hum Mutat. 2005 Jan;25(1):98-9. doi: 10.1002/humu.9298. Hum Mutat. 2005. PMID: 15605412
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