Sökresultat - Eladio A. Velasco

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  1. 1
    Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of<sup>c</sup>BCD541 and SMA Phenotype

    Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of<sup>c</sup>BCD541 and SMA Phenotype av Eladio A. Velasco, Carmen Valero, Ana Valero, Felipe Moreno, Concepción Hernández-Chico

    Publicerad 1996
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  2. 2
    Functional Classification of <i>BRCA2</i> DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

    Functional Classification of <i>BRCA2</i> DNA Variants by Splicing Assays in a Large Minigene with 9 Exons av Alberto Acedo, Cristina Hernández‐Moro, Álvaro Curiel‐García, Beatriz Díez‐Gómez, Eladio A. Velasco

    Publicerad 2014
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  3. 3
    Liberal transfusion strategies reduce sepsis risk and improve neurological recovery in acute brain injury: an updated systematic review and meta-analysis

    Liberal transfusion strategies reduce sepsis risk and improve neurological recovery in acute brain injury: an updated systematic review and meta-analysis av Nhan Nguyen, Victoria Ho, David Downes, Bach Xuan Tran, Van‐Dinh Nguyen, Eladio A. Velasco

    Publicerad 2025
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  4. 4
    Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

    Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes av Alberto Acedo, David J. Sanz, M. Durán, Mar Infante, Lucía Pérez‐Cabornero, Cristina Miner, Eladio A. Velasco

    Publicerad 2012
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  5. 5
    Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

    Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18 av Eugenia Fraile‐Bethencourt, Beatriz Díez‐Gómez, Valeria Velásquez‐Zapata, Alberto Acedo, David J. Sanz, Eladio A. Velasco

    Publicerad 2017
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  6. 6
    A High Proportion of DNA Variants of<i>BRCA1</i>and<i>BRCA2</i>Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

    A High Proportion of DNA Variants of<i>BRCA1</i>and<i>BRCA2</i>Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients av David J. Sanz, Alberto Acedo, Mar Infante, M. Durán, Lucía Pérez‐Cabornero, Eva Esteban‐Cardeñosa, Enrique Lastra, Franco Pagani, Cristina Miner, Eladio A. Velasco

    Publicerad 2010
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  7. 7
    Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

    Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays av Cristina Fortuño, Inés Llinares‐Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera‐Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco, Amanda B. Spurdle

    Publicerad 2025
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  8. 8
    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 av Ana Blanco, Miguel de la Hoya, Ana Osório, Orland Dı́ez, María Dolores Miramar, Mar Infante, Cristina Martínez-Bouzas, Asunción Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Pérez Segura, María J. García, Sara Gutiérrez‐Enríquez, Ángel Carracedo, María‐Isabel Tejada, Eladio A. Velasco, María-Teresa Calvo, Judith Balmañà, Javier Benı́tez, Trinidad Caldés, Ana Vega

    Publicerad 2013
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  9. 9
    Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer av Ana Blanco, Miguel de la Hoya, Judith Balmañà, Teresa Ramón y Cajal, Àlex Teulé, María-Dolores Miramar, Eva Esteban, Mar Infante, Javier Benı́tez, Asunción Torres, María‐Isabel Tejada, Joan Brunet, Begoña Graña, Milagros Balbı́n, Pedro Pérez‐Segura, Ana Osório, Eladio A. Velasco, Isabel Chirivella, María-Teresa Calvo, Lídia Feliubadaló, Adriana Lasa, Orland Dı́ez, Ángel Carracedo, Trinidad Caldés, Ana Vega

    Publicerad 2011
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  10. 10
    Analysis of<i>BRCA1</i>and<i>BRCA2</i>genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Analysis of<i>BRCA1</i>and<i>BRCA2</i>genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects av Orland Dı́ez, Ana Osório, M. Durán, José I. Martínez‐Ferrandis, Miguel de la Hoya, Raquel Salazar-Lugo, Ana Vega, Berta Campos, Raquel Rodríguez‐López, Eladio A. Velasco, Felipe Javier Chaves, Eduardo Díaz‐Rubio, Juan Jesús Cruz, María Torres, Eva Esteban, Andrés Cervantes, Carmen Alonso, J.M. San Román, Rogelio González‐Sarmiento, Cristina Miner, Ángel Carracedo, M.‐Eugenia Armengod, Trinidad Caldés, Javier Benı́tez, Montserrat Baiget

    Publicerad 2003
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  11. 11
    Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers av Roger L. Milne, Ana Osório, Teresa Ramón y Cajal, Montserrat Baiget, Adriana Lasa, Eduardo Díaz‐Rubio, Miguel de la Hoya, Trinidad Caldés, Àlex Teulé, Conxi Lázaro, Ignacio Blanco, Judith Balmañà, Gessamí Sánchez-Ollé, Ana Vega, Ana Blanco, Isabel Chirivella, Eva Esteban Cardeñosa, M. Durán, Eladio A. Velasco, Eduardo Martínez de Dueñas, María‐Isabel Tejada, María-Dolores Miramar, María-Teresa Calvo, Carmen Guillén‐Ponce, Raquel Salazar-Lugo, Carlos Román, Miguel Urioste, Javier Benı́tez

    Publicerad 2009
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  12. 12
    The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in <i>BRCA1</i> and <i>BRCA2</i> Attending Genetic Counseling Units in Spain

    The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in <i>BRCA1</i> and <i>BRCA2</i> Attending Genetic Counseling Units in Spain av Roger L. Milne, Ana Osório, Teresa Ramón y Cajal, Ana Vega, Gemma Llort, Miguel de la Hoya, Orland Dı́ez, M. Carmen Alonso, Conxi Lázaro, Ignacio Blanco, Ana Sánchez-de-Abajo, Miguel de la Hoya, Ana Blanco, Begoña Graña, M. Durán, Eladio A. Velasco, Isabel Chirivella, Eva Esteban Cardeñosa, María‐Isabel Tejada, Elena Beristain, María-Dolores Miramar, María-Teresa Calvo, Eduardo Martínez de Dueñas, Carmen Guillén‐Ponce, Raquel Salazar-Lugo, Carlos Román, Antonis C. Antoniou, Miguel Urioste, Javier Benı́tez

    Publicerad 2008
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