Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH

Por Barreiro, Jesús, Alonso-Fernândez, Jóse Ramón, Castro-Feijoo, Lidia, Colón, Cristóbal, Cabanas, Paloma, Heredia, Claudia, Castaño, Luis Antonio, Gómez-Lado, Carmen, Couce, M.Luz, Pombo, Manuel
Publicado em 2011

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Por Gómez-Carballa, Alberto, Cerezo, María, Balboa, Emilia, Heredia, Claudia, Castro-Feijóo, Lidia, Rica, Itxaso, Barreiro, Jesús, Eirís, Jesús, Cabanas, Paloma, Martínez-Soto, Isabel, Fernández-Toral, Joaquín, Castro-Gago, Manuel, Pombo, Manuel, Carracedo, Ángel, Barros, Francisco, Salas, Antonio
Publicado em 2011

Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Por Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
Publicado em 2010

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation...

Por Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
Publicado em 2011