Oligogenic Origin of Differences of Sex Development in Humans

by Núria Camats, Christa E Flück, Laura Audí
Published 2020-03-01

Contribution of rare copy number variants to isolated human malformations.

by Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado
Published 2012-01-01

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

by Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats
Published 2019-08-01

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

by Mónica Fernández-Cancio, Núria Camats, Christa E. Flück, Adam Zalewski, Bernhard Dick, Brigitte M. Frey, Raquel Monné, Núria Torán, Laura Audí, Amit V. Pandey
Published 2018-04-01

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

by Christa E Flück, Amit V Pandey, Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E Mullis, Laura Audi
Published 2011-01-01

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...

by Jana Malikova, Núria Camats, Mónica Fernández-Cancio, Karen Heath, Isabel González, María Caimarí, Miguel del Campo, Marian Albisu, Stanislava Kolouskova, Laura Audí, Christa E Flück
Published 2014-01-01

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

by Efstathios Katharopoulos, Natascia Di Lorgi, Paula Fernandez-Alvarez, Amit V. Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi, Mohamad Maghnie, Christa E. Flück
Published 2020-08-01

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

by Núria Camats, Mónica Fernández-Cancio, Laura Audí, Primus E Mullis, Francisca Moreno, Isabel González Casado, Juan Pedro López-Siguero, Raquel Corripio, José Antonio Bermúdez de la Vega, José Antonio Blanco, Christa E Flück
Published 2015-01-01

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

by Idoia Martinez de LaPiscina, Idoia Martinez de LaPiscina, Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V. Pandey, Amit V. Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Luis Castaño, Laura Audi, Christa E. Flück, Christa E. Flück
Published 2018-04-01

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

by Noelia Baz-Redón, Sandra Rovira-Amigo, Mónica Fernández-Cancio, Silvia Castillo-Corullón, Maria Cols, M. Araceli Caballero-Rabasco, Óscar Asensio, Carlos Martín de Vicente, Maria del Mar Martínez-Colls, Alba Torrent-Vernetta, Inés de Mir-Messa, Silvia Gartner, Ignacio Iglesias-Serrano, Ana Díez-Izquierdo, Eva Polverino, Esther Amengual-Pieras, Rosanel Amaro-Rodríguez, Montserrat Vendrell, Marta Mumany, María Teresa Pascual-Sánchez, Belén Pérez-Dueñas, Ana Reula, Amparo Escribano, Francisco Dasí, Miguel Armengot-Carceller, Marta Garrido-Pontnou, Núria Camats-Tarruella, Antonio Moreno-Galdó
Published 2020-11-01