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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: gruters a. 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
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: gruters a. 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
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: gruters a. 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.
Childhood obesity.
Speiser PW, Rudolf MC, Anhalt H, Camacho-Hubner C, Chiarelli F, Eliakim A, Freemark M, Gruters A, Hershkovitz E, Iughetti L, Krude H, Latzer Y, Lustig RH, Pescovitz OH, Pinhas-Hamiel O, Rogol AD, Shalitin S, Sultan C, Stein D, Vardi P, Werther GA, Zadik Z, Zuckerman-Levin N, Hochberg Z; Obesity Consensus Working Group. Speiser PW, et al. Among authors: gruters a. J Clin Endocrinol Metab. 2005 Mar;90(3):1871-87. doi: 10.1210/jc.2004-1389. Epub 2004 Dec 14. J Clin Endocrinol Metab. 2005. PMID: 15598688 Review.
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A. Biebermann H, et al. Among authors: gruters a. J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250. J Clin Endocrinol Metab. 2019. PMID: 30312418 Free PMC article.
165 results