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

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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

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Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3 by Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga

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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

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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

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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

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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

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Genetic profile of a large Spanish cohort with hypercalcemia by Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño

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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

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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

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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

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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

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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

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