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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: mazen i. 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 spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.
Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, Rossi R, Hiort O, Grüters A, Achermann JC. Köhler B, et al. Among authors: mazen i. Eur J Endocrinol. 2009 Aug;161(2):237-42. doi: 10.1530/EJE-09-0067. Epub 2009 May 13. Eur J Endocrinol. 2009. PMID: 19439508 Free PMC article.
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
Tantawy S, Mazen I, Soliman H, Anwar G, Atef A, El-Gammal M, El-Kotoury A, Mekkawy M, Torky A, Rudolf A, Schrumpf P, Grüters A, Krude H, Dumargne MC, Astudillo R, Bashamboo A, Biebermann H, Köhler B. Tantawy S, et al. Among authors: mazen i. Eur J Endocrinol. 2014 Apr 10;170(5):759-67. doi: 10.1530/EJE-13-0965. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24591553
Gonadectomy in conditions affecting sex development: a registry-based cohort study.
Lucas-Herald AK, Bryce J, Kyriakou A, Ljubicic ML, Arlt W, Audi L, Balsamo A, Baronio F, Bertelloni S, Bettendorf M, Brooke A, Claahsen van der Grinten HL, Davies JH, Hermann G, de Vries L, Hughes IA, Tadokoro-Cuccaro R, Darendeliler F, Poyrazoglu S, Ellaithi M, Evliyaoglu O, Fica S, Nedelea L, Gawlik A, Globa E, Zelinska N, Guran T, Güven A, Hannema SE, Hiort O, Holterhus PM, Iotova V, Mladenov V, Jain V, Sharma R, Jennane F, Johnston C, Guerra Junior G, Konrad D, Gaisl O, Krone N, Krone R, Lachlan K, Li D, Lichiardopol C, Lisa L, Markosyan R, Mazen I, Mohnike K, Niedziela M, Nordenstrom A, Rey R, Skaeil M, Tack LJW, Tomlinson J, Weintrob N, Cools M, Ahmed SF. Lucas-Herald AK, et al. Among authors: mazen i. Eur J Endocrinol. 2021 May 4;184(6):791-801. doi: 10.1530/EJE-20-1058. Eur J Endocrinol. 2021. PMID: 33780351 Free article.
81 results