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8 results on '"Berta Sousa, Ana"'

1. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

Author

Lamounier Junior, Arsonval, Guitián González, Alba, Rodríguez Vilela, Alejandro, Repáraz Andrade, Alfredo, Rubio Alcaide, Álvaro, Berta Sousa, Ana, Benito López, Carmen, Alonso García, Diego, Fernández Ferro, Germán, Cruz, Inês, Cárdenas Reyes, Ivonne Johana, Salazar-Mendiguchía García, Joel, Larrañaga-Moreira, José María, Ochoa, Juan Pablo, Palomino-Doza, Julián, de la Higuera Romero, Luis, Nicolás Cicerchia, Marcos, Restrepo Córdoba, María Alejandra, Peña-Peña, María Luisa, Noël Brögger, Maria, Loureiro, Marilia, Mogollón Jiménez, María Victoria, Bilbao Quesada, Raquel, Franco Gutiérrez, Raúl, García Hernández, Soledad, Ripoll-Vera, Tomás, Fernández, Xusto, Azevedo, Olga, García Pavía, Pablo, Lopes, Luis R., Ortiz, Martín, Brito, Dulce, Barriales-Villa, Roberto, and Monserrat Iglesias, Lorenzo

Published
2022
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2. Correlación genotipo-fenotipo en miocardiopatía hipertrófica: un estudio multicéntrico en Portugal y España sobre la variante p.Arg21Leu de TPM1

Author

Lamounier Junior, Arsonval, Guitián González, Alba, Rodríguez Vilela, Alejandro, Repáraz Andrade, Alfredo, Rubio Alcaide, Álvaro, Berta Sousa, Ana, Benito López, Carmen, Alonso García, Diego, Fernández Ferro, Germán, Cruz, Inês, Cárdenas Reyes, Ivonne Johana, Salazar-Mendiguchía García, Joel, Larrañaga-Moreira, José María, Ochoa, Juan Pablo, Palomino-Doza, Julián, de la Higuera Romero, Luis, Nicolás Cicerchia, Marcos, Restrepo Córdoba, María Alejandra, Peña-Peña, María Luisa, Noël Brögger, Maria, Loureiro, Marilia, Mogollón Jiménez, María Victoria, Bilbao Quesada, Raquel, Franco Gutiérrez, Raúl, García Hernández, Soledad, Ripoll-Vera, Tomás, Fernández, Xusto, Azevedo, Olga, García Pavía, Pablo, Lopes, Luis R., Ortiz, Martín, Brito, Dulce, Barriales-Villa, Roberto, and Monserrat Iglesias, Lorenzo

Published
2022
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5. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

Author

Lamounier Junior, Arsonval, primary, Guitián González, Alba, additional, Rodríguez Vilela, Alejandro, additional, Repáraz Andrade, Alfredo, additional, Rubio Alcaide, Álvaro, additional, Berta Sousa, Ana, additional, Benito López, Carmen, additional, Alonso García, Diego, additional, Fernández Ferro, Germán, additional, Cruz, Inês, additional, Cárdenas Reyes, Ivonne Johana, additional, Salazar-Mendiguchía García, Joel, additional, Larrañaga-Moreira, José María, additional, Ochoa, Juan Pablo, additional, Palomino-Doza, Julián, additional, de la Higuera Romero, Luis, additional, Nicolás Cicerchia, Marcos, additional, Restrepo Córdoba, María Alejandra, additional, Peña-Peña, María Luisa, additional, Noël Brögger, Maria, additional, Loureiro, Marilia, additional, Mogollón Jiménez, María Victoria, additional, Bilbao Quesada, Raquel, additional, Franco Gutiérrez, Raúl, additional, García Hernández, Soledad, additional, Ripoll-Vera, Tomás, additional, Fernández, Xusto, additional, Azevedo, Olga, additional, García Pavía, Pablo, additional, Lopes, Luis R., additional, Ortiz, Martín, additional, Brito, Dulce, additional, Barriales-Villa, Roberto, additional, and Monserrat Iglesias, Lorenzo, additional

Published
2021
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7. Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

Author

Justino, Ana, Dias, Patrícia, João Pina, Maria, Sousa, Sónia, Cirnes, Luís, Berta Sousa, Ana, Carlos Machado, José, and Costa, José Luis

Subjects
NUCLEOTIDE sequencing, CRANIOFACIAL abnormalities, CONGENITAL heart disease diagnosis, HUMAN chromosome abnormality diagnosis, MOLECULAR diagnosis, GENETIC testing, DIAGNOSIS
Abstract

Variants in 11 genes of the RAS/MAPK signaling pathway have been causally linked to the neuro-cardio-facio-cutaneous syndromes group (NCFCS). Recently, A2ML1 and RIT1 were also associated with these syndromes. Because of the genetic and clinical heterogeneity of NCFCS, it is challenging to define strategies for their molecular diagnosis. The aim of this study was to develop and validate a massive parallel sequencing (MPS)-based strategy for the molecular diagnosis of NCFCS. A multiplex PCR-based strategy for the enrichment of the 13 genes and a variant prioritization pipeline was established. Two sets of genomic DNA samples were studied using the Ion PGM System: (1) training set (n=15) to optimize the strategy and (2) validation set (n=20) to validate and evaluate the power of the new methodology. Sanger sequencing was performed to confirm all variants and low covered regions. All variants identified by Sanger sequencing were detected with our MPS approach. The methodology resulted in an experimental approach with a specificity of 99.0% and a maximum analytical sensitivity of ≥98.2% with a confidence of 99%. Importantly, two patients (out of 20) harbored described disease-causing variants in genes that are not routinely tested (RIT1 and SHOC2). The addition of less frequently altered genes increased in ≈10% the diagnostic yield of the strategy currently used. The presented workflow provides a comprehensive genetic screening strategy for patients with NCFCS in a fast and cost-efficient manner. This approach demonstrates the potential of a combined MPS-Sanger sequencing-based strategy as an effective diagnostic tool for heterogeneous diseases. [ABSTRACT FROM AUTHOR]

Published
2015
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8. Correlación genotipo-fenotipo en miocardiopatía hipertrófica: un estudio multicéntrico en Portugal y España sobre la variante p.Arg21Leu de TPM1

Author

Lamounier Junior, Arsonval, Guitián González, Alba, Rodríguez Vilela, Alejandro, Repáraz Andrade, Alfredo, Rubio Alcaide, Álvaro, Berta Sousa, Ana, Benito López, Carmen, Alonso García, Diego, Fernández Ferro, Germán, Cruz, Inês, Cárdenas Reyes, Ivonne Johana, Salazar-Mendiguchía García, Joel, Larrañaga-Moreira, José María, Ochoa, Juan Pablo, Palomino-Doza, Julián, de la Higuera Romero, Luis, Nicolás Cicerchia, Marcos, Restrepo Córdoba, María Alejandra, Peña-Peña, María Luisa, Noël Brögger, Maria, Loureiro, Marilia, Mogollón Jiménez, María Victoria, Bilbao Quesada, Raquel, Franco Gutiérrez, Raúl, García Hernández, Soledad, Ripoll-Vera, Tomás, Fernández, Xusto, Azevedo, Olga, García Pavía, Pablo, Lopes, Luis R., Ortiz, Martín, Brito, Dulce, Barriales-Villa, Roberto, and Monserrat Iglesias, Lorenzo

Abstract

TPM1es uno de los principales genes en la miocardiopatía hipertrófica (MCH). La información clínica sobre portadores es relativamente escasa, lo cual limita la interpretación de los estudios genéticos. Nuestro objetivo es establecer la correlación genotipo-fenotipo de la variante p.Arg21Leu de TPM1en una serie de familias.

Published
2021
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