Faucz, Fabio R.

Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome

Beuschlein, F., Fassnacht, M., Assié, G., Calebiro, D., Stratakis, C. A., Osswald, A., Ronchi, C. L., Wieland, T., Sbiera, S., Faucz, F. R., et al. (2014) · New England Journal of Medicine

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 443

Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation

Faucz, F. R., Zilbermint, M., Lodish, M. B., Szarek, E., Trivellin, G., Sinaii, N., Berthon, A., Libé, R., Assié, G., Espiard, S., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 166

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, F. R., Fratticci, A., Raffin Sanson, M. L., Vezzosi, D., Azevedo, M., Levy, I., Almeida, M. Q., et al. (2012) · Clinical Endocrinology

Adrenal and Paraganglionic TumorsPhosphodiesterase function and regulation

Cited by 96

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

Lao, Q., Burkardt, D. D., Kollender, S., Faucz, F. R., & Merke, D. P. (2023) · Molecular Genetics & Genomic Medicine

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 8

Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X

Lao, Q., Zhou, K., Parker, M., Faucz, F. R., & Merke, D. P. (2023) · Genes

Sexual Differentiation and DisordersConnective tissue disorders research

Cited by 1