A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

Por Camats, Núria, Üstyol, Ala, Atabek, Mehmet Emre, Dick, Bernhard, Flück, Christa E
Publicado no Clin Case Rep (2015)

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Por Serra-Juhé, Clara, Rodríguez-Santiago, Benjamín, Cuscó, Ivon, Vendrell, Teresa, Camats, Núria, Torán, Núria, Pérez-Jurado, Luis A.
Publicado em 2012

Pairing and recombination features during meiosis in Cebus paraguayanus (Primates: Platyrrhini)

Por Garcia-Cruz, Raquel, Robles, Pedro, Steinberg, Eliana R, Camats, Nuria, Brieño, Miguel A, Garcia-Caldés, Montserrat, Mudry, Marta D
Publicado em 2009

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

Testicular differentiation factor SF-1 is required for human spleen development

Por Zangen, David, Kaufman, Yotam, Banne, Ehud, Weinberg-Shukron, Ariella, Abulibdeh, Abdulsalam, Garfinkel, Benjamin P., Dweik, Dima, Kanaan, Moein, Camats, Núria, Flück, Christa, Renbaum, Paul, Levy-Lahad, Ephrat
Publicado em 2014

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)