Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas

by Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Published 2021-07-01

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

by Alejandro García‐Castaño, Ana Perdomo‐Ramirez, Mònica Vall‐Palomar, Elena Ramos‐Trujillo, Leire Madariaga, Gema Ariceta, Felix Claverie‐Martin
Published 2020-11-01

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

by Inés Urrutia, Rosa Martínez, Itxaso Rica, Idoia Martínez de LaPiscina, Alejandro García-Castaño, Anibal Aguayo, Begoña Calvo, Luis Castaño, Spanish Pediatric Diabetes Collaborative Group
Published 2019-01-01

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

by Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, Luis Castaño
Published 2018-12-01

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.

by Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Alvaro Madrid, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Luis Castaño, Gema Ariceta, RenalTube Group
Published 2013-01-01

Signification of distal urinary acidification defects in hypocitraturic patients.

by Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, Marie Courbebaisse
Published 2017-01-01

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

by Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide
Published 2020-01-01

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

by Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group, Gema Ariceta
Published 2017-01-01

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

by Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide, Obul Reddy Bandapalli
Published 2020-01-01

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

by Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Published 2021-02-01

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

by Idoia Martínez de LaPiscina, Laura C. Hernández-Ramírez, Nancy Portillo, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martínez-Salazar, Alejandro García-Castaño, Aníbal Aguayo, Itxaso Rica, Itxaso Rica, Sonia Gaztambide, Sonia Gaztambide, Fabio R. Faucz, Margaret F. Keil, Maya B. Lodish, Maya B. Lodish, Martha Quezado, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M. Kay, James L. Mills, Luis Castaño, Constantine A. Stratakis
Published 2020-07-01