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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: bouchard p. Hum Mutat. 2005 Jan;25(1):98-9. doi: 10.1002/humu.9298. Hum Mutat. 2005. PMID: 15605412
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: bouchard p. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP. Dodé C, et al. Among authors: bouchard p. PLoS Genet. 2006 Oct 20;2(10):e175. doi: 10.1371/journal.pgen.0020175. Epub 2006 Sep 1. PLoS Genet. 2006. PMID: 17054399 Free PMC article.
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Dodé C, Fouveaut C, Mortier G, Janssens S, Bertherat J, Mahoudeau J, Kottler ML, Chabrolle C, Gancel A, François I, Devriendt K, Wolczynski S, Pugeat M, Pineiro-Garcia A, Murat A, Bouchard P, Young J, Delpech M, Hardelin JP. Dodé C, et al. Among authors: bouchard p. Hum Mutat. 2007 Jan;28(1):97-8. doi: 10.1002/humu.9470. Hum Mutat. 2007. PMID: 17154279
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Piñero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo M, Mathieu M, Lienhardt-Roussie A, Morgan G, Turki Z, Bremont C, Lespinasse J, Du Boullay H, Chabbert-Buffet N, Jacquemont S, Reach G, De Talence N, Tonella P, Conrad B, Despert F, Delobel B, Brue T, Bouvattier C, Cabrol S, Pugeat M, Murat A, Bouchard P, Hardelin JP, Dodé C, Young J. Sarfati J, et al. Among authors: bouchard p. J Clin Endocrinol Metab. 2010 Feb;95(2):659-69. doi: 10.1210/jc.2009-0843. Epub 2009 Dec 18. J Clin Endocrinol Metab. 2010. PMID: 20022991
[Levothyrox : time of reason].
Bertagna X, Bouchard P, Grimaldi A, Wémeau JL, Young J. Bertagna X, et al. Among authors: bouchard p. Rev Prat. 2018 Feb;68(2):123-125. Rev Prat. 2018. PMID: 30801135 French. No abstract available.
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.
Chakhtoura Z, Bachelot A, Samara-Boustani D, Ruiz JC, Donadille B, Dulon J, Christin-Maître S, Bouvattier C, Raux-Demay MC, Bouchard P, Carel JC, Leger J, Kuttenn F, Polak M, Touraine P; Centre des Maladies Endocriniennes Rares de la Croissance and Association Surrénales. Chakhtoura Z, et al. Among authors: bouchard p. Eur J Endocrinol. 2008 Jun;158(6):879-87. doi: 10.1530/EJE-07-0887. Epub 2008 Apr 7. Eur J Endocrinol. 2008. PMID: 18390993
Cardiovascular findings and management in Turner syndrome: insights from a French cohort.
Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara-Boustani D, Salenave S, Monnier-Cholley L, Meuleman C, Jondeau G, Iserin L, Duranteau L, Cabanes L, Bourcigaux N, Bonnet D, Bouchard P, Chanson P, Polak M, Touraine P, Lebouc Y, Carel JC, Léger J, Christin-Maitre S. Donadille B, et al. Among authors: bouchard p. Eur J Endocrinol. 2012 Oct;167(4):517-22. doi: 10.1530/EJE-12-0434. Epub 2012 Jul 16. Eur J Endocrinol. 2012. PMID: 22802424 Free article.
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: bouchard p. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. Hum Mutat. 2008. PMID: 18642388
591 results