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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: kottler ml. 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: kottler ml. 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: kottler ml. Hum Mutat. 2007 Jan;28(1):97-8. doi: 10.1002/humu.9470. Hum Mutat. 2007. PMID: 17154279
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wołczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. Choi JH, et al. Among authors: kottler ml. J Clin Endocrinol Metab. 2015 Oct;100(10):E1378-85. doi: 10.1210/jc.2015-2262. Epub 2015 Jul 24. J Clin Endocrinol Metab. 2015. PMID: 26207952 Free PMC article.
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Geneviève D, et al. Among authors: kottler ml. Eur J Hum Genet. 2005 Sep;13(9):1033-9. doi: 10.1038/sj.ejhg.5201448. Eur J Hum Genet. 2005. PMID: 15915160
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
Kottler ML, Chauvin S, Lahlou N, Harris CE, Johnston CJ, Lagarde JP, Bouchard P, Farid NR, Counis R. Kottler ML, et al. J Clin Endocrinol Metab. 2000 Sep;85(9):3002-8. doi: 10.1210/jcem.85.9.6783. J Clin Endocrinol Metab. 2000. PMID: 10999776
105 results