Výsledky vyhledávání - "Emilia Maneiro"

Akademický článek

Novel frameshift variants expand the map of the genetic defects in IRF2BP2

Autor: José María García-Aznar, Emilia Maneiro Pampín, Maite García Ramos, María José Acuña Pérez, Nerea Paz Gandiaga, Laura Minguell Domingo, Olga Calavia, Pere Soler-Palacin, Roger Colobran, Erika M. Novoa Bolívar, Javier Gonzalo Ocejo Vinyals

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

BackgroundAt present, the knowledge about disease-causing mutations in IRF2BP2 is very limited because only a few patients affected by this condition have been reported. As previous studies have described, the haploinsufficiency of this interferon tr

Externí odkaz: https://doaj.org/article/de4d55f278164823b4e8b63927542c96

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Akademický článek

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

Autor: Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santomé, Lorenzo Monserrat

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-22 (2022)

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. Genetic testing of the proband

Externí odkaz: https://doaj.org/article/c868467e243b4073b28e6489e0a7d28c

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Akademický článek

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

Autor: Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina, Lorenzo Monserrat

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-14 (2021)

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 one known heterozygous path

Externí odkaz: https://doaj.org/article/4ac6dfad532a4107bb331639ee65c964

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Akademický článek

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

Autor: Lorenzo Monserrat, Luis Santomé, Emilia Maneiro, Juan Pablo Ochoa, Christian A. Ganoza, Natalia Sonicheva-Paterson, Elena Vasichkina, Isaac Rosa, Germán Fernández, Mario Torrado, Diego A. García

Publikováno v: RUC. Repositorio da Universidade da Coruña
instname
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-14 (2021)
NPJ Genomic Medicine

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 one known heterozygous pathogenic mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a154ea2e41865e425c2803ba75bc3a
http://hdl.handle.net/2183/30985

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A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

Autor: Lorenzo Monserrat, Maddalena Graziosi, Irene Capelli, Ornella Leone, Mario Torrado, Giovanna Cenacchi, Emilia Maneiro, Raffaello Ditaranto, Ferdinando Pasquale, Claudio Rapezzi, Fabio Niro, Giovanni Vitale, Elena Biagini

Publikováno v: Canadian Journal of Cardiology. 36:1554.e1-1554.e3

The coexistence of GLA (Pro259Ser, c.775C>T) and MYBPC3 (c.1351+2T>C) mutations was found in a female patient with hypertrophic cardiomyopathy. Histology documented abundant vacuolisation with osmiophilic lamellar bodies and positive Gb3 immunohistoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e17f0a8f661f683170037684a00c41a3
https://doi.org/10.1016/j.cjca.2020.04.008

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

Autor: Lorenzo Monserrat, Arturo Evangelista, Alexander T. Mikhailov, Mario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero

Publikováno v: BioMed Research International, Vol 2018 (2018)
RUC. Repositorio da Universidade da Coruña
instname
BioMed Research International

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 a novel intronic FBN1 mutation (the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24c55674642d15d5d8861bc77ebbe49

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