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

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)

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)