Listar GI- GRINCAR - Artigos por autor "Monserrat, Lorenzo"

Mostrando ítems 1-7 de 7

    • A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome 

      Torrado, Mario; Fernández, Germán; Ganoza, Christian A.; Maneiro, Emilia; García, Diego; Sonicheva-Paterson, Natalia; Rosa, Isaac; Ochoa, Juan Pablo; Santomé, Luis; Vasichkina, Elena; Monserrat, Lorenzo (Nature, 2021-03-04)
      [Abstract] Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed ...

    • A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome 

      Torrado, Mario; Maneiro, Emilia; Trujillo-Quintero, Juan Pablo; Evangelista, Arturo; Mikhailov, Alexander T.; Monserrat, Lorenzo (Hindawi, 2018)
      [Abstract] Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified ...

    • Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations 

      Hermida-Prieto, Manuel; Monserrat, Lorenzo; Castro-Beiras, Alfonso; Laredo, Rafael; Soler Fernández, Rafaela; Peteiro-Vázquez, Jesús; Rodríguez, Esther; Bouzas-Zubeldia, Beatriz; Álvarez-García, Nemesio; Muñiz, Javier; Crespo-Leiro, María Generosa (Elsevier, 2004-06-23)
      [Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial ...

    • Identification of an Elusive Spliceogenic MYBPC3 Variant in an Otherwise Genotype-Negative Hypertrophic Cardiomyopathy Pedigree 

      Torrado, Mario; Maneiro, Emilia; Mamounier Junior, Arsonval; Fernández-Burriel, Miguel; Sánchez Giralt, Sara; Martínez-Carapeto, Ana; Cazón, Laura; Santiago, Elisa; Ochoa, Juan Pablo; McKenna, William J.; Santomé, Luis; Monserrat, Lorenzo (Nature, 2022-05-04)
      [Abstract] The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. ...

    • Prognostic Value of Treadmill Exercise Echocardiography 

      Peteiro-Vázquez, Jesús; Monserrat, Lorenzo; Mariñas-Dávila, Javier; Garrido, Iris P.; Bouzas-Caamaño, María; Muñiz, Javier; Bouzas-Mosquera, Alberto; Bouzas-Zubeldia, Beatriz; Álvarez-García, Nemesio; Castro-Beiras, Alfonso (Elsevier, 2005)
      [Abstract] Introduction and objectives. Exercise echocardiography (EE) is useful for diagnosing coronary disease, but little is known about its value for risk stratification. We aimed to determine: a) whether data from EE ...

    • Protein Haploinsufficiency Drivers Identify MYBPC3 Variants That Cause Hypertrophic Cardiomyopathy 

      Suay-Corredera, Carmen; Pricolo, María Rosaria; Herrero-Galán, Elías; Velázquez-Carreras, Diana; Sánchez-Ortiz, David; García-Giustiniani, Diego; Delgado, Javier; Galano-Frutos, Juan José; García-Cebollada, Helena; Vilches, Silvia; Domínguez, Fernando; Sabater Molina, María; Barriales-Villa, Roberto; Frisso, Giulia; Sancho, Javier; Serrano, Luis; García-Pavía, Pablo; Monserrat, Lorenzo; Alegre-Cebollada, Jorge (Elsevier, 2021-06-05)
      [Abstract] Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the ...

    • Screening Mutations in Myosin Binding Protein C3 Gene in a Cohort of Patients With Hypertrophic Cardiomyopathy 

      Rodríguez García, María Isabel; Monserrat, Lorenzo; Ortiz, Martín; Fernández, Xusto; Cazón, Laura; Núñez, Lucía; Barriales-Villa, Roberto; Maneiro, Emilia; Veira, Elena; Castro-Beiras, Alfonso; Hermida-Prieto, Manuel (BioMed Central, 2010)
      [Abstract] Background. MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease ...