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Page 1
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.
Ertl DA, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A. Ertl DA, et al. Among authors: rothenbuhler a. J Endocrinol Invest. 2023 Aug;46(8):1673-1684. doi: 10.1007/s40618-023-02026-2. Epub 2023 Feb 7. J Endocrinol Invest. 2023. PMID: 36749450
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.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Among authors: rothenbuhler a. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410
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.
Effects of Cushing disease on bone mineral density in a pediatric population.
Lodish MB, Hsiao HP, Serbis A, Sinaii N, Rothenbuhler A, Keil MF, Boikos SA, Reynolds JC, Stratakis CA. Lodish MB, et al. Among authors: rothenbuhler a. J Pediatr. 2010 Jun;156(6):1001-1005. doi: 10.1016/j.jpeds.2009.12.027. Epub 2010 Mar 10. J Pediatr. 2010. PMID: 20223476 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.
92 results