Search Results - de la Hoya, Miguel

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  1. 1
    Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families

    Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families by Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad

    Published 2013
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  2. 2
    Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

    Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 by Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.

    Published 2020
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  3. 3
    Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

    Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 by Mesman, Romy L. S., Calléja, Fabienne M. G. R., de la Hoya, Miguel, Devilee, Peter, van Asperen, Christi J., Vrieling, Harry, Vreeswijk, Maaike P. G.

    Published 2020
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  4. 4
    Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

    Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition by Martin-Morales, Lorena, Rofes, Paula, Diaz-Rubio, Eduardo, Llovet, Patricia, Lorca, Victor, Bando, Inmaculada, Perez-Segura, Pedro, de la Hoya, Miguel, Garre, Pilar, Garcia-Barberan, Vanesa, Caldes, Trinidad

    Published 2018
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  5. 5
    Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain

    Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain by de Abajo, Ana Sánchez, de la Hoya, Miguel, Tosar, Alicia, Godino, Javier, Fernández, Juan Manuel, Asenjo, Jose Lopez, Villamil, Beatriz Perez, Segura, Pedro Perez, Diaz-Rubio, Eduardo, Caldes, Trinidad

    Published 2005
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  6. 6
    Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

    Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C by Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Valenzuela-Palomo, Alberto, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, Pérez-Segura, Pedro, García-Álvarez, Alicia, de la Hoya, Miguel, Velasco-Sampedro, Eladio A.

    Published 2022
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  7. 7
    Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

    Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes by Gayarre, Javier, Martín-Gimeno, Paloma, Osorio, Ana, Paumard, Beatriz, Barroso, Alicia, Fernández, Victoria, de la Hoya, Miguel, Rojo, Alejandro, Caldés, Trinidad, Palacios, José, Urioste, Miguel, Benítez, Javier, García, María J

    Published 2017
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  8. 8
    Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

    Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families by de Garibay, Gorka Ruiz, Díaz, Avellaneda, Gaviña, Belén, Romero, Atocha, Garre, Pilar, Vega, Ana, Blanco, Ana, Tosar, Alicia, Díez, Orland, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, de la Hoya, Miguel

    Published 2013
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  9. 9
    BRCA1 Alternative splicing landscape in breast tissue samples

    BRCA1 Alternative splicing landscape in breast tissue samples by Romero, Atocha, García-García, Francisco, López-Perolio, Irene, Ruiz de Garibay, Gorka, García-Sáenz, José A, Garre, Pilar, Ayllón, Patricia, Benito, Esperanza, Dopazo, Joaquín, Díaz-Rubio, Eduardo, Caldés, Trinidad, de la Hoya, Miguel

    Published 2015
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  10. 10
    Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci

    Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci by Rosa-Rosa, Juan Manuel, Pita, Guillermo, Urioste, Miguel, Llort, Gemma, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Ramón y Cajal, Teresa, Díez, Orland, de la Hoya, Miguel, Caldés, Trinidad, Tejada, Maria-Isabel, González-Neira, Anna, Benítez, Javier

    Published 2009
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  11. 11
    Assessment of Topoisomerase II α Status in Breast Cancer by Quantitative PCR, Gene Expression Microarrays, Immunohistochemistry, and Fluorescence in Situ Hybridization

    Assessment of Topoisomerase II α Status in Breast Cancer by Quantitative PCR, Gene Expression Microarrays, Immunohistochemistry, and Fluorescence in Situ Hybridization by Romero, Atocha, Martín, Miguel, Cheang, Maggie C.U., López García-Asenjo, José Antonio, Oliva, Belén, He, Xiaping, de la Hoya, Miguel, García Sáenz, Jose Ángel, Arroyo Fernández, Manuel, Díaz Rubio, Eduardo, Perou, Charles M., Llopis, Trinidad Caldés

    Published 2011
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  12. 12
    Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

    Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes by Brandão, Rita D., Mensaert, Klaas, López‐Perolio, Irene, Tserpelis, Demis, Xenakis, Markos, Lattimore, Vanessa, Walker, Logan C., Kvist, Anders, Vega, Ana, Gutiérrez‐Enríquez, Sara, Díez, Orland, de la Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.

    Published 2019
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  13. 13
    Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

    Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome by Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Poves, Carmen, Fernández-Aceñero, María Jesús, Ruiz-Ponte, Clara, Llovet, Patricia, Marrupe, David, García-Barberán, Vanesa, García-Paredes, Beatriz, Pérez-Segura, Pedro, de la Hoya, Miguel, Díaz-Rubio, Eduardo, Caldés, Trinidad, Garre, Pilar

    Published 2017
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  14. 14
    RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

    RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants by Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.

    Published 2021
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  15. 15
    Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

    Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing by Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Fernández-Aceñero, María Jesús, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, García-Barberán, Vanesa, Sanz, Julián, Pérez-Segura, Pedro, de Voer, Richarda M., Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Garre, Pilar

    Published 2019
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  16. 16
    Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

    Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification by Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Investigators, kConFab, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel

    Published 2019
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  17. 17
    Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

    Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene by Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Llovet, Patricia, Díez-Gómez, Beatriz, Caloca, María José, Pérez-Segura, Pedro, Fraile-Bethencourt, Eugenia, Colmena, Marta, Carvalho, Sara, Allen, Jamie, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.

    Published 2020
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  18. 18
    Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

    Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? by Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara

    Published 2018
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  19. 19
    Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants

    Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants by Valenzuela‐Palomo, Alberto, Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Lorca, Víctor, Fraile‐Bethencourt, Eugenia, Esteban‐Sánchez, Ada, Gómez‐Barrero, Susana, Carvalho, Sara, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Dorling, Leila, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, de la Hoya, Miguel, Velasco, Eladio A

    Published 2021
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  20. 20
    Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases by Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A., Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana

    Published 2013
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