Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Por Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Schaller, André, Flück, Christa E.
Publicado no Eur J Hum Genet (2018)

A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene

Por Burget, Lukas, Parera, Laura Audí, Fernandez-Cancio, Monica, Gräni, Rolf, Henzen, Christoph, Flück, Christa E
Publicado no Endocrinol Diabetes Metab Case Rep (2018)

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Por Flück, Christa E., Pandey, Amit V., Dick, Bernhard, Camats, Núria, Fernández-Cancio, Mónica, Clemente, María, Gussinyé, Miquel, Carrascosa, Antonio, Mullis, Primus E., Audi, Laura
Publicado em 2011

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency

Por Fernández-Cancio, Mónica, Camats, Núria, Flück, Christa E., Zalewski, Adam, Dick, Bernhard, Frey, Brigitte M., Monné, Raquel, Torán, Núria, Audí, Laura, Pandey, Amit V.
Publicado no Pharmaceuticals (Basel) (2018)

Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Bey...

Por Malikova, Jana, Camats, Núria, Fernández-Cancio, Mónica, Heath, Karen, González, Isabel, Caimarí, María, del Campo, Miguel, Albisu, Marian, Kolouskova, Stanislava, Audí, Laura, Flück, Christa E.
Publicado em 2014

Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population

Por Esteban, Cristina, Audí, Laura, Carrascosa, Antonio, Fernández-Cancio, Mónica, Pérez-Arroyo, Annalisa, Ulied, Angels, Andaluz, Pilar, Arjona, Rosa, Albisu, Marian, Clemente, María, Gussinyé, Miquel, Yeste, Diego
Publicado em 2007

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

Por Tiosano, Dov, Audi, Laura, Climer, Sharlee, Zhang, Weixiong, Templeton, Alan R., Fernández-Cancio, Monica, Gershoni-Baruch, Ruth, Sánchez-Muro, José Miguel, El Kholy, Mohamed, Hochberg, Zèev
Publicado no G3 (Bethesda) (2016)

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Por Martinez de LaPiscina, Idoia, de Mingo, Carmen, Riedl, Stefan, Rodriguez, Amaia, Pandey, Amit V., Fernández-Cancio, Mónica, Camats, Nuria, Sinclair, Andrew, Castaño, Luis, Audi, Laura, Flück, Christa E.
Publicado no Front Endocrinol (Lausanne) (2018)

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Por Camats, Núria, Fernández-Cancio, Mónica, Audí, Laura, Mullis, Primus E., Moreno, Francisca, González Casado, Isabel, López-Siguero, Juan Pedro, Corripio, Raquel, Bermúdez de la Vega, José Antonio, Blanco, José Antonio, Flück, Christa E.
Publicado no PLoS One (2015)

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Por Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L., Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C., Van Veldhoven, Paul P., Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay, Metherell, Louise A.
Publicado no J Clin Invest (2017)