25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics

por Castano, Luis, Madariaga, Leire, Grau, Gema, García-Castaño, Alejandro
Publicado 2022

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

por Madariaga, Leire, García-Castaño, Alejandro, Ariceta, Gema, Martínez-Salazar, Rosa, Aguayo, Aníbal, Castaño, Luis
Publicado 2018

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

por García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix
Publicado 2020

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

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

por García-Castaño, Alejandro, Gómez-Conde, Sara, Gondra, Leire, Herrero, María, Aguirre, Mireia, de la Hoz, Ana-Belén, Castaño, Luis, Madariaga, Leire
Publicado 2023

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

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

por García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Madrid, Alvaro, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, Castaño, Luis, Ariceta, Gema
Publicado 2013

Signification of distal urinary acidification defects in hypocitraturic patients

por Forni Ogna, Valentina, Blanchard, Anne, Vargas-Poussou, Rosa, Ogna, Adam, Baron, Stéphanie, Bertocchio, Jean-Philippe, Prot-Bertoye, Caroline, Nevoux, Jérôme, Dubourg, Julie, Maruani, Gérard, Mendes, Margarida, Garcia-Castaño, Alejandro, Treard, Cyrielle, Lepottier, Nelly, Houillier, Pascal, Courbebaisse, Marie
Publicado 2017

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

por García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño, Luis, Ariceta, Gema
Publicado 2017

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

Five patients with disorders of calcium metabolism presented with GCM2 gene variants

por García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, Cordo, Carmen Lourdes Rey, López-Iglesias, María, Garcia-Fernández, Yolanda, Martín, Alicia, González, Pedro, Goicolea, Ignacio, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, de LaPiscina, Idoia Martínez, Martínez, Rosa, Saso, Laura, Urrutia, Inés, Velasco, Olaia, Castaño, Luis, Gaztambide, Sonia
Publicado 2021

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