Molecular Aspects of Sex Development in Mammals: New Insight for Practice

by Laura Audí, Silvano Bertelloni, Christa E. Flück
Published 2020-11-01

Oligogenic Origin of Differences of Sex Development in Humans

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

Intracellular Oxidant Activity, Antioxidant Enzyme Defense System, and Cell Senescence in Fibroblasts with Trisomy 21

by Víctor Rodríguez-Sureda, Ángel Vilches, Olga Sánchez, Laura Audí, Carmen Domínguez
Published 2015-01-01

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

by Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Published 2018-03-01

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

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

by Dov Tiosano, Laura Audi, Sharlee Climer, Weixiong Zhang, Alan R. Templeton, Monica Fernández-Cancio, Ruth Gershoni-Baruch, José Miguel Sánchez-Muro, Mohamed El Kholy, Zèev Hochberg
Published 2016-05-01

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

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

by Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus
Published 2016-01-01

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

Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD)

by Julio Guerrero-Fernández, Cristina Azcona San Julián, Jesús Barreiro Conde, José Antonio Bermúdez de la Vega, Atilano Carcavilla Urquí, Luis Antonio Castaño González, José María Martos Tello, Amaya Rodríguez Estévez, Diego Yeste Fernández, Leopoldo Martínez Martínez, María José Martínez-Urrutia, Cristina Mora Palma, Laura Audí Parera
Published 2018-11-01

Management guidelines for disorders/different sex development (DSD)

by Julio Guerrero-Fernández, Cristina Azcona San Julián, Jesús Barreiro Conde, José Antonio Bermúdez de la Vega, Atilano Carcavilla Urquí, Luis Antonio Castaño González, José María Martos Tello, Amaya Rodríguez Estévez, Diego Yeste Fernández, Leopoldo Martínez Martínez, María José Martínez-Urrutia, Cristina Mora Palma, Laura Audí Parera
Published 2018-11-01