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

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

por Elhayek, Donia, Perez de Nanclares, Gustavo, Chouchane, Slaheddine, Hamami, Saber, Mlika, Adnène, Troudi, Monia, Leban, Nadia, Ben Romdane, Wafa, Gueddiche, Mohamed Neji, El Amri, Féthi, Mrabet, Samir, Ben Chibani, Jemni, Castaño, Luis, Haj Khelil, Amel, Ariceta, Gema
Publicado 2013

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