Carney Complex
Kamilaris, Crystal D. C., Faucz, Fabio Rueda, Voutetakis, Antonis, Stratakis, Constantine A.
Published in Experimental and clinical endocrinology & diabetes (01.02.2019)
Published in Experimental and clinical endocrinology & diabetes (01.02.2019)
Get full text
Journal Article
Clinical and Molecular Genetics of the Phosphodiesterases (PDEs)
Azevedo, Monalisa F, Faucz, Fabio R, Bimpaki, Eirini, Horvath, Anelia, Levy, Isaac, de Alexandre, Rodrigo B, Ahmad, Faiyaz, Manganiello, Vincent, Stratakis, Constantine A
Published in Endocrine reviews (01.04.2014)
Published in Endocrine reviews (01.04.2014)
Get full text
Journal Article
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome
Settas, Nikolaos, Faucz, Fabio R., Stratakis, Constantine A.
Published in Molecular and cellular endocrinology (05.07.2018)
Published in Molecular and cellular endocrinology (05.07.2018)
Get full text
Journal Article
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
Cohen, Michal, Persky, Rebecca, Stegemann, Rachel, Hernández-Ramírez, Laura C, Zeltser, Deena, Lodish, Maya B, Chen, Anlu, Keil, Margaret F, Tatsi, Christina, Faucz, Fabio R, Buchner, David A, Stratakis, Constantine A, Tiosano, Dov
Published in The journal of clinical endocrinology and metabolism (01.10.2019)
Published in The journal of clinical endocrinology and metabolism (01.10.2019)
Get full text
Journal Article
Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome
Beuschlein, Felix, Fassnacht, Martin, Assié, Guillaume, Calebiro, Davide, Stratakis, Constantine A, Osswald, Andrea, Ronchi, Cristina L, Wieland, Thomas, Sbiera, Silviu, Faucz, Fabio R, Schaak, Katrin, Schmittfull, Anett, Schwarzmayr, Thomas, Barreau, Olivia, Vezzosi, Delphine, Rizk-Rabin, Marthe, Zabel, Ulrike, Szarek, Eva, Salpea, Paraskevi, Forlino, Antonella, Vetro, Annalisa, Zuffardi, Orsetta, Kisker, Caroline, Diener, Susanne, Meitinger, Thomas, Lohse, Martin J, Reincke, Martin, Bertherat, Jérome, Strom, Tim M, Allolio, Bruno
Published in The New England journal of medicine (13.03.2014)
Published in The New England journal of medicine (13.03.2014)
Get full text
Journal Article
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease
Perez-Rivas, Luis G, Theodoropoulou, Marily, Ferraù, Francesco, Nusser, Clara, Kawaguchi, Kohei, Stratakis, Constantine A, Faucz, Fabio Rueda, Wildemberg, Luiz E, Assié, Guillaume, Beschorner, Rudi, Dimopoulou, Christina, Buchfelder, Michael, Popovic, Vera, Berr, Christina M, Tóth, Miklós, Ardisasmita, Arif Ibrahim, Honegger, Jürgen, Bertherat, Jerôme, Gadelha, Monica R, Beuschlein, Felix, Stalla, Günter, Komada, Masayuki, Korbonits, Márta, Reincke, Martin
Published in The journal of clinical endocrinology and metabolism (01.07.2015)
Published in The journal of clinical endocrinology and metabolism (01.07.2015)
Get full text
Journal Article
Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation
Faucz, Fabio R, Zilbermint, Mihail, Lodish, Maya B, Szarek, Eva, Trivellin, Giampaolo, Sinaii, Ninet, Berthon, Annabel, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Bertherat, Jerome, Stratakis, Constantine A
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
Published in The journal of clinical endocrinology and metabolism (01.06.2014)
Get full text
Journal Article
Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Sahut-Barnola, Isabelle, Lefrançois-Martinez, Anne-Marie, Dufour, Damien, Botto, Jean-Marie, Kamilaris, Crystal, Faucz, Fabio R., Stratakis, Constantine A., Val, Pierre, Martinez, Antoine
Published in Journal of investigative dermatology (01.11.2022)
Published in Journal of investigative dermatology (01.11.2022)
Get full text
Journal Article
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad
Haller, Florian, Moskalev, Evgeny A, Faucz, Fabio R, Barthelmeß, Sarah, Wiemann, Stefan, Bieg, Matthias, Assie, Guillaume, Bertherat, Jerome, Schaefer, Inga-Marie, Otto, Claudia, Rattenberry, Eleanor, Maher, Eamonn R, Ströbel, Philipp, Werner, Martin, Carney, J Aidan, Hartmann, Arndt, Stratakis, Constantine A, Agaimy, Abbas
Published in Endocrine-related cancer (01.08.2014)
Published in Endocrine-related cancer (01.08.2014)
Get full text
Journal Article
FAF1 Gene Involvement in Pituitary Corticotroph Tumors
Nguyen, Matthew, Maria, Andrea Gutierrez, Faucz, Fabio R, Trivellin, Giampaolo, Stratakis, Constantine A, Tatsi, Christina
Published in Hormone and metabolic research (01.08.2024)
Published in Hormone and metabolic research (01.08.2024)
Get more information
Journal Article
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency
Settas, Nikolaos, Persky, Rebecca, Faucz, Fabio R, Sheanon, Nicole, Voutetakis, Antonis, Lodish, Maya, Metherell, Louise A, Stratakis, Constantine A
Published in The journal of clinical endocrinology and metabolism (01.05.2019)
Published in The journal of clinical endocrinology and metabolism (01.05.2019)
Get full text
Journal Article
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease
Faucz, Fabio R, Tirosh, Amit, Tatsi, Christina, Berthon, Annabel, Hernández-Ramírez, Laura C, Settas, Nikolaos, Angelousi, Anna, Correa, Ricardo, Papadakis, Georgios Z, Chittiboina, Prashant, Quezado, Martha, Pankratz, Nathan, Lane, John, Dimopoulos, Aggeliki, Mills, James L, Lodish, Maya, Stratakis, Constantine A
Published in The journal of clinical endocrinology and metabolism (01.08.2017)
Published in The journal of clinical endocrinology and metabolism (01.08.2017)
Get full text
Journal Article
c-KIT oncogene expression in PRKAR1A-mutant adrenal cortex
Nadella, Kiran, Faucz, Fabio R, Stratakis, Constantine A
Published in Endocrine-related cancer (01.10.2020)
Published in Endocrine-related cancer (01.10.2020)
Get full text
Journal Article
Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis
Piña, Jeremie Oliver, Raju, Resmi, Roth, Daniela M., Winchester, Emma Wentworth, Chattaraj, Parna, Kidwai, Fahad, Faucz, Fabio R., Iben, James, Mitra, Apratim, Campbell, Kiersten, Fridell, Gus, Esnault, Caroline, Cotney, Justin L., Dale, Ryan K., D’Souza, Rena N.
Published in Nature communications (14.09.2023)
Published in Nature communications (14.09.2023)
Get full text
Journal Article
Disorders of the adrenal cortex: Genetic and molecular aspects
Pitsava, Georgia, Maria, Andrea G., Faucz, Fabio R.
Published in Frontiers in endocrinology (Lausanne) (29.08.2022)
Published in Frontiers in endocrinology (Lausanne) (29.08.2022)
Get full text
Journal Article
Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism
Franke, Martin, Daly, Adrian F., Palmeira, Leonor, Tirosh, Amit, Stigliano, Antonio, Trifan, Eszter, Faucz, Fabio R., Abboud, Dayana, Petrossians, Patrick, Tena, Juan J., Vitali, Eleonora, Lania, Andrea G., Gómez-Skarmeta, José L., Beckers, Albert, Stratakis, Constantine A., Trivellin, Giampaolo
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
Get full text
Journal Article
Web Resource