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Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M. Cheung MS, et al. Among authors: rothenbuhler a. Am J Med Genet A. 2024 Feb;194(2):243-252. doi: 10.1002/ajmg.a.63431. Epub 2023 Oct 9. Am J Med Genet A. 2024. PMID: 37814549
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.
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.
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.
Multiple hormonal resistances: Diagnosis, evaluation and therapy.
Linglart A, Silve C, Rothenbuhler A. Linglart A, et al. Among authors: rothenbuhler a. Ann Endocrinol (Paris). 2015 May;76(2):98-100. doi: 10.1016/j.ando.2015.03.029. Epub 2015 Apr 23. Ann Endocrinol (Paris). 2015. PMID: 25913526 Review.
87 results