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Burosumab and Dental Abscesses in Children With X-Linked Hypophosphatemia.
Gadion M, Hervé A, Herrou J, Rothenbuhler A, Smail-Faugeron V, Courson F, Linglart A, Chaussain C, Biosse Duplan M. Gadion M, et al. Among authors: rothenbuhler a. JBMR Plus. 2022 Sep 20;6(11):e10672. doi: 10.1002/jbm4.10672. eCollection 2022 Nov. JBMR Plus. 2022. PMID: 36398111 Free PMC article.
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA. Rothenbuhler A, et al. Clin Endocrinol (Oxf). 2012 Aug;77(2):195-9. doi: 10.1111/j.1365-2265.2012.04366.x. Clin Endocrinol (Oxf). 2012. PMID: 22335482 Free PMC article.
ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.
Louiset E, Gobet F, Libé R, Horvath A, Renouf S, Cariou J, Rothenbuhler A, Bertherat J, Clauser E, Grise P, Stratakis CA, Kuhn JM, Lefebvre H. Louiset E, et al. Among authors: rothenbuhler a. J Clin Endocrinol Metab. 2010 Jan;95(1):18-24. doi: 10.1210/jc.2009-0881. Epub 2009 Nov 13. J Clin Endocrinol Metab. 2010. PMID: 19915020 Free PMC article.
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA. Faucz FR, et al. Among authors: rothenbuhler a. J Clin Endocrinol Metab. 2011 Jan;96(1):E135-40. doi: 10.1210/jc.2010-1655. Epub 2010 Sep 29. J Clin Endocrinol Metab. 2011. PMID: 20881257 Free PMC article.
Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
London E, Rothenbuhler A, Lodish M, Gourgari E, Keil M, Lyssikatos C, de la Luz Sierra M, Patronas N, Nesterova M, Stratakis CA. London E, et al. Among authors: rothenbuhler a. J Clin Endocrinol Metab. 2014 Feb;99(2):E303-10. doi: 10.1210/jc.2013-1956. Epub 2013 Nov 18. J Clin Endocrinol Metab. 2014. PMID: 24248186 Free PMC article.
Clinical and molecular genetics of Carney complex.
Rothenbuhler A, Stratakis CA. Rothenbuhler A, et al. Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):389-99. doi: 10.1016/j.beem.2010.03.003. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20833331 Review.
92 results