Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Mónica García-Castro"'
Publikováno v:
International Journal of Molecular Sciences 2023, 24, 36
The etiology of oculo–auriculo–vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases is unclear but appears genetically heterogeneous. This motivated us to report
Autor:
Ana Miar, Victoria Alvarez, Mónica García-Castro, Eliecer Coto, José M. Rubín, César Morís, C. García, Julián R. Reguero
Publikováno v:
Revista Española de Cardiología. 63:856-859
El sindrome de Brugada se caracteriza por un bloqueo de la rama derecha y elevacion del segmento ST en las derivaciones precordiales derechas del electrocardiograma. Con frecuencia se observa una transmision familiar, y en aproximadamente el 25% de l
Autor:
C. García, José M. Rubín, Mónica García-Castro, Eliecer Coto, Ana Miar, Victoria Alvarez, César Morís, Julián R. Reguero
Publikováno v:
Revista Española de Cardiología (English Edition). 63:856-859
Brugada syndrome is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. Familial transmission is frequent and approximately 25% of cases exhibit mutations in the SCN5A gene. We analyzed the sequence
Autor:
Fernando Santos, MA Basterrechea, Marta Díaz, Ana I. Corao, Mónica García-Castro, Gabriel de Arriba, S Tallon, Marta Sánchez Heras, Eliecer Coto, Victoria Alvarez
Publikováno v:
American Journal of Nephrology. 30:218-221
Background: Gitelman’s syndrome (GS) is caused by mutations in the SLC12A3. Most of the mutations are rare, making it difficult to establish a genotype-phenotype correlation. Although GS is a recessive disorder, some patients also have an affected
Autor:
Mónica García-Castro, Eliecer Coto, J.R. Berrazueta, María Martín, Belén Alonso, Victoria Alvarez, Julián R. Reguero, César Morís, Rocío Sainz
Publikováno v:
Revista Española de Cardiología. 62:48-56
Introduccion y objetivos. Las mutaciones en los genes sarcomericos son la causa mas frecuente de miocardiopatia hipertrofica. Para cada gen, la frecuencia de mutaciones varia entre los estudios, y las manifestaciones clinicas son muy heterogeneas, lo
Autor:
Mónica García-Castro, Alberto Ortiz, Ernesto Gómez, Isabel Rodríguez, Carmen Díaz-Corte, J Baltar, Francisco Ortega, Victoria Alvarez, Grace Tamara Moscoso-Solorzano, Eliecer Coto
Publikováno v:
Clinical Transplantation. 22:722-729
Background: The cyclophilin A (CypA) - cyclosporine (CsA) complex promotes immune response. The variation at the CypA gene could explain CsA-pharmacokinetics and clinical outcomes among CsA-treated patients. Methods: The study included 290 kidney tra
Autor:
María Martín, Ana de la Torre, David Calvo, José J. Rodríguez-Reguero, Miguel del Valle, César Morís de la Tassa, Agapito Fernández, Mónica García-Castro
Publikováno v:
Revista Española de Cardiología. 61:426-429
Presentamos un estudio realizado sobre 825 futbolistas federados de las categorias juvenil y superiores, en el que se procede al cribado de miocardiopatia hipertrofica mediante electrocardiograma (ECG) de doce derivaciones; se practico ecocardiograma
Autor:
Eliecer Coto, Pelayo González, Alberto Batalla, Gustavo I. Cubero, Victoria Alvarez, Beatriz Díaz-Molina, Julián R. Reguero, Arturo Cortina, Mónica García-Castro
Publikováno v:
Clinical Chemistry. 49:1279-1285
Background: Mutations in the cardiac β-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes are reportedly responsible for up to 40% of familial cases with hypertrophic cardiomyopathy (HC). Although there are no mutational hotspots, most o
Autor:
Julián R. Reguero, Eliecer Coto, Mónica García-Castro, Arturo Cortina, Gustavo Iglesias-Cubero, Pelayo González, Blanca Morales, María Martín, Alberto Batalla, Victoria Alvarez
Publikováno v:
Clinical Science. 104:241-245
This study was designed to analyse possible associations between DNA polymorphisms in the 5-hydroxytryptamine (5-HT; serotonin) 5-HT2A receptor and the 5-HT transporter (5-HTT) genes, and myocardial infarction (MI). 5-HT has been shown to be involved
Autor:
Felicitas Catalán, Eliecer Coto, Julián R. Reguero, Juan Mayordomo, Mónica García-Castro, Alberto Batalla
Publikováno v:
Revista Española de Cardiología. 56:1022-1025
We determined the prevalence of mutations considered malignant in the genes for beta-myosin heavy chain (MYH7, 11 mutations) and troponin T (TNNT2, 5 mutations) in 30 patients with hypertrophic cardiomyopathy aged 18 to 60 years, 83% of whom had fami