Search Results - "Calvo, Mª Teresa"

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome by Pié, Juan, Gil-Rodríguez, María Concepción, Ciero, Milagros, López-Viñas, Eduardo, Ribate, María Pilar, Arnedo, María, Deardorff, Matthew A., Puisac, Beatriz, Legarreta, Jesús, de Karam, Juan Carlos, Rubio, Encarnación, Bueno, Inés, Baldellou, Antonio, Calvo, Mª Teresa, Casals, Nuria, Olivares, José Luis, Losada, Ana, Hegardt, Fausto G., Krantz, Ian D., Gómez-Puertas, Paulino, Ramos, Feliciano J.

“…Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes…”
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Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels by Zhou, Qing, Garin, Intza, Castaño, Luis, Argente, Jesús, Muñoz-Calvo, Ma. Teresa, Perez de Nanclares, Guiomar, Shyng, Show-Ling

“…Context: ATP-sensitive potassium (KATP) channels regulate insulin secretion by coupling glucose metabolism to β-cell membrane potential. Gain-of-function…”
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A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome by Martín-Rivada, Álvaro, Rodríguez-Contreras, Francisco Javier, Muñoz-Calvo, Mª. Teresa, Güemes, María, González-Casado, Isabel, del Pozo, Jaime Sánchez, Campos-Barros, Ángel, Argente, Jesús

“…We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene. A male with congenital hypopituitarism and…”
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Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels by Zhou, Qing, Garin, Intza, Castaño, Luis, Argente, Jesús, Muñoz-Calvo, Ma. Teresa, Perez de Nanclares, Guiomar, Shyng, Show-Ling

“…J Clin Endocrinol Metab, published September 1, 2010, 10.1210/jc.2010-1231…”
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Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels by Zhou, Qing, Garin, Intza, Castaño, Luis, Argente, Jesús, Muñoz-Calvo, Ma. Teresa, Perez de Nanclares, Guiomar, Shyng, Show-Ling

“…J Clin Endocrinol Metab, published September 1, 2010, 10.1210/jc.2010-1231…”
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Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años by López Pisón, Javier, Rebage Moisés, Victor, Baldellou Vázquez, Antonio, Capablo Liesa, José Luis, Colomer Oferil, Jaume, Calvo, Mª Teresa, Sáenz de Cabezón, Alicia, Alfaro Torres, Jorge, del Agua, Celia, Bestué Cardiel, María, Peña Segura, José Luis

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