Audi, Laura

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Number of items: 5.

Journal Article

Martinez de LaPiscina, Idoia; de Mingo, Carmen; Riedl, Stefan; Rodriguez, Amaia; Pandey, Amit Vikram; Fernández-Cancio, Mónica; Camats, Nuria; Sinclair, Andrew; Castaño, Luis; Audi, Laura; Flück Pandey, Christa Emma (2018). 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. Frontiers in endocrinology, 9, p. 142. Frontiers Research Foundation 10.3389/fendo.2018.00142

Tack, Lloyd J W; Maris, Ellen; Looijenga, Leendert H J; Hannema, Sabine E; Audi, Laura; Köhler, Birgit; Holterhus, Paul-Martin; Riedl, Stefan; Wisniewski, Amy; Flück Pandey, Christa Emma; Davies, Justin H; T Apos Sjoen, Guy; Lucas-Herald, Angela K; Evliyaoglu, Olcay; Krone, Nils; Iotova, Violeta; Marginean, Otilia; Balsamo, Antonio; Verkauskas, Gilvydas; Weintrob, Naomi; ... (2018). Management of Gonads in Adults with Androgen Insensitivity: An International Survey. Hormone research in paediatrics, 90(4), pp. 236-246. Karger 10.1159/000493645

Hirsch, Andrea; Meimaridou, Eirini; Fernandez-Cancio, Monica; Pandey, Amit V; Clemente, María; Audi, Laura; Clark, Adrian J L; Flück, Christa E (2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056

Flück, Christa E; Pandey, Amit V; Dick, Bernhard; Camats, Núria; Fernández-Cancio, Mónica; Clemente, María; Gussinyé, Miquel; Carrascosa, Antonio; Mullis, Primus E; Audi, Laura (2011). Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. PLoS ONE, 6(5), e20178. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0020178

Conference or Workshop Item

Feller, Katrin Madeleine; Flück Pandey, Christa Emma; Audi, Laura; Fernandez-Cancio, Monica; Stettler, Christoph (20 May 2017). A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient. Endocrine abstracts, 49. 10.1530/endoabs.49.EP1090

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