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Page 1
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C. Maimoun L, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2011 Feb;96(2):296-307. doi: 10.1210/jc.2010-1024. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147889
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: cabrol s. 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: cabrol s. 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
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. Netchine I, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. doi: 10.1210/jc.2007-0354. Epub 2007 May 15. J Clin Endocrinol Metab. 2007. PMID: 17504900
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mébarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J. Moisan AM, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 1999 Dec;84(12):4410-25. doi: 10.1210/jcem.84.12.6288. J Clin Endocrinol Metab. 1999. PMID: 10599696
Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment.
Donadieu J, Rolon MA, Pion I, Thomas C, Doz F, Barkaoui M, Robert A, Deville A, Mazingue F, David M, Brauner R, Cabrol S, Garel C, Polak M; French LCH Study Group. Donadieu J, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2004 Feb;89(2):604-9. doi: 10.1210/jc.2003-030907. J Clin Endocrinol Metab. 2004. PMID: 14764769
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: cabrol s. 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.
90 results