Search Results - "Garcia‐Castaño, Alejandro"

Signification of distal urinary acidification defects in hypocitraturic patients by 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

“…Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary…”
Get full text

25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics by Castano, Luis, Madariaga, Leire, Grau, Gema, García-Castaño, Alejandro

“…Vitamin D is essential for the normal mineralization of bones during childhood. Although diet and adequate sun exposure should provide enough of this nutrient,…”
Get full text

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes? by Urrutia, Inés, Martínez, Rosa, Rica, Itxaso, Martínez de LaPiscina, Idoia, García-Castaño, Alejandro, Aguayo, Anibal, Calvo, Begoña, Castaño, Luis

“…Monogenic diabetes can be misdiagnosed as type 1 or type 2 diabetes in children. The right diagnosis is crucial for both therapeutic choice and prognosis and…”
Get full text

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

“…Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory…”
Get full text

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

“…Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the…”
Get full text

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

“…The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with…”
Get full text

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis by García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix

“…Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary…”
Get full text

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

“…Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital…”
Get full text

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

“…The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic…”
Get full text

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

“…Summary Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is…”
Get full text

Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis by Gómez-Conde, Sara, García-Castaño, Alejandro, Aguirre, Mireia, Herrero, María, Gondra, Leire, García-Pérez, Nélida, García-Ledesma, Paula, Martín-Penagos, Luis, Dall’Anese, Cecilia, Ariceta, Gema, Castaño, Luis, Madariaga, Leire

“…Background Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal mechanisms of urinary acidification. Most cases…”
Get full text

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia by 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

“…The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport…”
Get full text

Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain by Urrutia, Inés, Martín-Nieto, Alicia, Martínez, Rosa, Casanovas-Marsal, J Oriol, Aguayo, Anibal, del Olmo, Juan, Arana, Eunate, Fernandez-Rubio, Elsa, Castaño, Luis, Gaztambide, Sonia

“…The aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an…”
Get full text

Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus by García-Castaño, Alejandro, Madariaga, Leire, Pérez de Nanclares, Gustavo, Vela, Amaia, Rica, Itxaso, Gaztambide, Sonia, Martínez, Rosa, Martinez de LaPiscina, Idoia, Urrutia, Inés, Aguayo, Anibal, Velasco, Olaia, Castaño, Luis

Get full text

Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus by García-Castaño, Alejandro, Madariaga, Leire, Pérez de Nanclares, Gustavo, Vela, Amaia, Rica, Itxaso, Gaztambide, Sonia, Martínez, Rosa, Martinez de LaPiscina, Idoia, Urrutia, Inés, Aguayo, Anibal, Velasco, Olaia, Castaño, Luis

“…Familial neurohypophyseal diabetes insipidus is a rare disease produced by a deficiency in the secretion of antidiuretic hormone and is caused by mutations in…”
Get full text

Hypercalcemia in patients with mutations in NR3C2 and SCNN1B by Sainz de Los Terreros Errea, Amaya, Madariaga, Leire, García-Castaño, Alejandro

Get more information

Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant by de Frutos, Fernando, Diez-Lopez, Carles, García-Romero, Elena, Gondra, Leire, Madariaga, Leire, Ariceta, Gema, García-Castaño, Alejandro, Melilli, Edoardo, Herrador, Lorena, Triguero-Llonch, Laura, Gran, Ferran, Rosenfeld, Laia, Llatjos, Roger, Comin-Colet, Josep, González-Costello, José

Get full text

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract by Madariaga, Leire, García-Castaño, Alejandro, Ariceta, Gema, Martínez-Salazar, Rosa, Aguayo, Aníbal, Castaño, Luis

“…Mutations in ( ) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies…”
Get full text

Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives by Gómez-Conde, Sara, García-Castaño, Alejandro, Aguirre, Mireia, Herrero, María, Gondra, Leire, Castaño, Luis, Madariaga, Leire

“…Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting…”
Get full text

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study by García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Chocron, Sara, Madrid, Alvaro, Lafita Tejedor, Francisco Javier, Gil Campos, Mercedes, Sánchez del Pozo, Jaime, Ruiz Cano, Rafael, Espino, Mar, Gomez Vida, Jose Maria, Santos, Fernando, García Nieto, Victor Manuel, Loza, Reyner, Rodríguez, Luis Miguel, Hidalgo Barquero, Emilia, Printza, Nikoleta, Camacho, Juan Antonio, Castaño, Luis, Ariceta, Gema

“…Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to…”
Get full text