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Rojas Velazquez, Maria Natalia; Blanco, Fabiola; Ayala-Lugo, Ana; Franco, Lady; Jolly, Valerie; Di Tore, Denisse; Martinez de LaPiscina, Idoia; Janner, Marco; Flück Pandey, Christa E.; Pandey, Amit V. (2024). A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient. International journal of molecular sciences, 25(6), p. 3143. MDPI 10.3390/ijms25063143
Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941
Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
Martinez de LaPiscina, Idoia; Flück, Christa E. (2021). Genetics of human sexual development and related disorders. Current opinion in pediatrics, 33(6), pp. 556-563. Wolters Kluwer Health 10.1097/MOP.0000000000001066
Flück, Christa E.; Audí, Laura; Fernández-Cancio, Mónica; Sauter, Kay-Sara; Martinez de LaPiscina, Idoia; Castaño, Luis; Esteva, Isabel; Camats, Núria (2019). Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. Frontiers in genetics, 10(746), p. 746. Frontiers Media SA 10.3389/fgene.2019.00746
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
