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 2018

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

por Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.
Publicado 2020

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

por Flück, Christa E., Audí, Laura, Fernández-Cancio, Mónica, Sauter, Kay-Sara, Martinez de LaPiscina, Idoia, Castaño, Luis, Esteva, Isabel, Camats, Núria
Publicado 2019

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both th...

por Baz-Redón, Noelia, Soler-Colomer, Laura, Fernández-Cancio, Mónica, Benito-Sanz, Sara, Garrido, Marta, Moliné, Teresa, Clemente, María, Camats-Tarruella, Núria, Yeste, Diego
Publicado 2022

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 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 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 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 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 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 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 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 2017

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

por Rudilla, Francesc, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Garcia-Prat, Marina, Martín-Nalda, Andrea, Rivière, Jacques, Aguiló-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier, Irastorza, Iñaki, Santos-Pérez, Juan Luis, Tercedor Sánchez, Jesús, Cuscó, Ivon, Serra, Clara, Baz-Redón, Noelia, Fernández-Cancio, Mónica, Carreras, Carmen, Vagace, José Manuel, Garcia-Patos, Vicenç, Pujol-Borrell, Ricardo, Soler-Palacín, Pere, Colobran, Roger
Publicado 2019

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

por Baz-Redón, Noelia, Rovira-Amigo, Sandra, Fernández-Cancio, Mónica, Castillo-Corullón, Silvia, Cols, Maria, Caballero-Rabasco, M. Araceli, Asensio, Óscar, Martín de Vicente, Carlos, Martínez-Colls, Maria del Mar, Torrent-Vernetta, Alba, de Mir-Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Díez-Izquierdo, Ana, Polverino, Eva, Amengual-Pieras, Esther, Amaro-Rodríguez, Rosanel, Vendrell, Montserrat, Mumany, Marta, Pascual-Sánchez, María Teresa, Pérez-Dueñas, Belén, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Garrido-Pontnou, Marta, Camats-Tarruella, Núria, Moreno-Galdó, Antonio
Publicado 2020