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Page 1
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: carel jc. 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: carel jc. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
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: carel jc. 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.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M. Cohen E, et al. Among authors: carel jc. Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6. Hum Mutat. 2019. PMID: 31231873
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: carel jc. 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
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP; PGL.NET network. Burnichon N, et al. J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. doi: 10.1210/jc.2008-2504. Epub 2009 May 19. J Clin Endocrinol Metab. 2009. PMID: 19454582
[Weakening osteopathies, chronic kidney disease, malabsorption, biological anomalies of calium/phosphorus metabolism: appropriate indications for a reasoned reimbursment of serum vitamin D measurement].
Souberbielle JC, Benhamou CL, Cortet B, Rousière M, Roux C, Abitbol V, Annweiler C, Audran M, Bacchetta J, Bataille P, Beauchet O, Bardet R, Benachi A, Berenbaum F, Blain H, Borson-Chazot F, Breuil V, Briot K, Brunet P, Carel JC, Caron P, Chabre O, Chanson P, Chapurlat R, Cochat P, Coutant R, Christin-Maitre S, Cohen-Solal M, Combe C, Cormier C, Courbebaisse M, Debrus G, Delemer B, Deschenes G, Duquenne M, Fardellone P, Fouque D, Friedlander G, Gauvain JB, Groussin L, Guggenbuhl P, Houillier P, Hannedouche T, Jacot W, Javier RM, Jean G, Jeandel C, Joly D, Kamenicky P, Knebelmann B, Lafage-Proust MH, LeBouc Y, Legrand E, Levy-Weil F, Linglart A, Machet L, Maheu E, Mallet E, Marcelli C, Marès P, Mariat C, Maruani G, Maugars Y, Montagnon F, Moulin B, Orcel P, Partouche H, Personne V, Pierrot-Deseilligny C, Polak M, Pouteil-Noble C, Prié D, Raynaud-Simon A, Rolland Y, Sadoul JL, Salle B, Sault C, Schott AM, Sermet-Gaudelus I, Soubrier M, Tack I, Thervet É, Tostivint I, Touraine P, Tremollières F, Urena-Torres P, Viard JP, Wemeau JL, Weryha G, Winer N, Young J, Thomas T. Souberbielle JC, et al. Among authors: carel jc. Ann Biol Clin (Paris). 2014 Jul-Aug;72(4):385-9. doi: 10.1684/abc.2014.0972. Ann Biol Clin (Paris). 2014. PMID: 25119796 Free article. French. No abstract available.
269 results