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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: pienkowski c. 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
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C. Philibert P, et al. Among authors: pienkowski c. Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21. Fertil Steril. 2010. PMID: 19463997 Free article.
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.
Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, Schoenle E, Sultan C. Philibert P, et al. Among authors: pienkowski c. J Clin Endocrinol Metab. 2008 Mar;93(3):895-900. doi: 10.1210/jc.2007-2023. Epub 2008 Jan 8. J Clin Endocrinol Metab. 2008. PMID: 18182450
Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).
Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C, Lebon-Labich B, Paris F, Sultan C. Philibert P, et al. Among authors: pienkowski c. Fertil Steril. 2011 Jun 30;95(8):2683-6. doi: 10.1016/j.fertnstert.2011.01.152. Epub 2011 Mar 5. Fertil Steril. 2011. PMID: 21377155 Free article.
Phenotypic variation of SF1 gene mutations.
Philibert P, Paris F, Audran F, Kalfa N, Polak M, Thibaud E, Pinto G, Houang M, Zenaty D, Leger J, Mas JC, Pienkowski C, Einaudi S, Damiani D, Ten S, Sinha S, Poulat F, Sultan C. Philibert P, et al. Among authors: pienkowski c. Adv Exp Med Biol. 2011;707:67-72. doi: 10.1007/978-1-4419-8002-1_16. Adv Exp Med Biol. 2011. PMID: 21691958 No abstract available.
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?
Kalfa N, Ecochard A, Patte C, Duvillard P, Audran F, Pienkowski C, Thibaud E, Brauner R, Lecointre C, Plantaz D, Guedj AM, Paris F, Baldet P, Lumbroso S, Sultan C. Kalfa N, et al. Among authors: pienkowski c. J Clin Endocrinol Metab. 2006 May;91(5):1842-7. doi: 10.1210/jc.2005-2710. Epub 2006 Feb 28. J Clin Endocrinol Metab. 2006. PMID: 16507630
111 results