Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

por Urrutia, Inés, Martínez, Rosa, Rica, Itxaso, Martínez de LaPiscina, Idoia, García-Castaño, Alejandro, Aguayo, Anibal, Calvo, Begoña, Castaño, Luis
Publicado 2019

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY

por Urrutia, Inés, Martínez, Rosa, López-Euba, Tamara, Velayos, Teresa, Martínez de LaPiscina, Idoia, Bilbao, José Ramón, Rica, Itxaso, Castaño, Luis
Publicado 2017

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

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

por García-Castaño, Alejandro, Madariaga, Leire, Azriel, Sharona, Pérez de Nanclares, Gustavo, Martínez de LaPiscina, Idoia, Martínez, Rosa, Urrutia, Inés, Aguayo, Aníbal, Gaztambide, Sonia, Castaño, Luis
Publicado 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

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

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1

por Martínez de LaPiscina, Idoia, Mahmoud, Rana AA, Sauter, Kay-Sara, Esteva, Isabel, Alonso, Milagros, Costa, Ines, Rial-Rodriguez, Jose Manuel, Rodríguez-Estévez, Amaia, Vela, Amaia, Castano, Luis, Flück, Christa E.
Publicado 2020

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

por García-Castaño, Alejandro, Madariaga, Leire, Antón-Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez-Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez, Rosa, Saso, Laura, Martínez de LaPiscina, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo, Aníbal, Castaño, Luis, Gaztambide, Sonia
Publicado 2020

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

por Martínez de LaPiscina, Idoia, Hernández-Ramírez, Laura C., Portillo, Nancy, Gómez-Gila, Ana L., Urrutia, Inés, Martínez-Salazar, Rosa, García-Castaño, Alejandro, Aguayo, Aníbal, Rica, Itxaso, Gaztambide, Sonia, Faucz, Fabio R., Keil, Margaret F., Lodish, Maya B., Quezado, Martha, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Mills, James L., Castaño, Luis, Stratakis, Constantine A.
Publicado 2020