Listar por autor "Aguirre, M."

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  • Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study 
    García Castaño, A.; Pérez de Nanclares, G.; Madariaga, L.; Aguirre, M.; Chocron, S.; Madrid, A.; Lafita Tejedor, F.J.; Gil Campos, M.; Sánchez del Pozo, J.; Ruiz Cano, R.; Espino, M.; Gomez Vida, J.M.; Santos, F.; García Nieto, V.M.; Loza, R.; Rodríguez, L.M.; Hidalgo Barquero, E.; Printza, N.; Camacho, J.A.; Castaño, L.; Ariceta, G.; RenalTube Group (Springer, 2015)
    Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...
  • Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome 
    Castano, A. G.; de Nanclares, G. P.; Madariaga, L.; Aguirre, M.; Madrid, A.; Chocron, S.; Nadal, I.; Navarro, M.; Lucas, E.; Fijo, J.; Espino, M.; Espitaletta, Z.; Nieto, V. G.; de Frutos, D. B.; Loza, R.; Pintos, G.; Castano, L.; Ariceta, G.; RenalTube Group (Public Library of Science, 2017)
    Introduction: 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 chloride channel protein ClC-Kb. In this study, we ...

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