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The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C. Marcos S, et al. Among authors: pugeat m. J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. J Clin Endocrinol Metab. 2014. PMID: 25077900
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: pugeat m. 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
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, García-Piñero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dodé C. Hanchate NK, et al. Among authors: pugeat m. PLoS Genet. 2012 Aug;8(8):e1002896. doi: 10.1371/journal.pgen.1002896. Epub 2012 Aug 23. PLoS Genet. 2012. PMID: 22927827 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: pugeat m. Hum Mutat. 2007 Jan;28(1):97-8. doi: 10.1002/humu.9470. Hum Mutat. 2007. PMID: 17154279
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.
Hacquart T, Ltaief-Boudrigua A, Jeannerod C, Hannoun S, Raverot G, Pugeat M, Brac de la Perriere A, Lapras V, Nugues F, Dode C, Cotton F. Hacquart T, et al. Among authors: pugeat m. Ann Endocrinol (Paris). 2017 Oct;78(5):455-461. doi: 10.1016/j.ando.2016.12.003. Epub 2017 Aug 12. Ann Endocrinol (Paris). 2017. PMID: 28807454
Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.
Moran C, Azziz R, Weintrob N, Witchel SF, Rohmer V, Dewailly D, Marcondes JA, Pugeat M, Speiser PW, Pignatelli D, Mendonca BB, Bachega TA, Escobar-Morreale HF, Carmina E, Fruzzetti F, Kelestimur F. Moran C, et al. Among authors: pugeat m. J Clin Endocrinol Metab. 2006 Sep;91(9):3451-6. doi: 10.1210/jc.2006-0062. Epub 2006 Jul 5. J Clin Endocrinol Metab. 2006. PMID: 16822826
183 results