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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: cartigny m. 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
Infant cholestasis in McCune-Albright syndrome.
El-Rifai N, Lumbroso S, Cartigny M, Weill J, Sultan C, Gottrand F. El-Rifai N, et al. Among authors: cartigny m. Acta Paediatr. 2004 Jan;93(1):141. doi: 10.1080/08035250310007880. Acta Paediatr. 2004. PMID: 14989456 No abstract available.
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E, Winter M, Mallet D, Plotton I, Bouvattier C, Cartigny M, Martinerie L, Polak M, Bachelot A, Huet F, Baron S, Houang M, Soskin S, Lienhardt A, Bertherat J, Amouroux C, Bouty A, Duranteau L, Besson R, El Ghoneimi A, Samara-Boustani D, Becmeur F, Kalfa N, Paris F, Medjkane F, Brac de la Perrière A, Bretones P, Lejeune H, Nicolino M, Mouriquand P, Gorduza DB, Gay CL. Bonnet E, et al. Among authors: cartigny m. Endocr Connect. 2023 Feb 14;12(3):e220227. doi: 10.1530/EC-22-0227. Print 2023 Mar 1. Endocr Connect. 2023. PMID: 36606580 Free PMC article.
Mental health status of individuals with sexual development disorders: A review.
Bohet M, Besson R, Jardri R, Manouvrier S, Catteau-Jonard S, Cartigny M, Aubry E, Leroy C, Frochisse C, Medjkane F. Bohet M, et al. Among authors: cartigny m. J Pediatr Urol. 2019 Aug;15(4):356-366. doi: 10.1016/j.jpurol.2019.04.010. Epub 2019 Apr 17. J Pediatr Urol. 2019. PMID: 31133504 Review.
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, Smol T, Caumes R, de Roux N, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: cartigny m. Eur J Hum Genet. 2017 Aug;25(8):1011-1014. doi: 10.1038/ejhg.2017.73. Epub 2017 Jun 7. Eur J Hum Genet. 2017. PMID: 28589944 Free PMC article.
38 results