Rezultaty - Miguel de la Hoya

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  1. 1
    Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

    Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families od Ana Osório, Daniela Endt, Fernando Fernández, Katharina Eirich, Miguel de la Hoya, Rita K. Schmutzler, Trinidad Caldés, Alfons Meindl, Detlev Schindler, Javier Benı́tez

    Wydane 2012
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  2. 2
    Loss of heterozygosity analysis at the <i>BRCA</i> loci in tumor samples from patients with familial breast cancer

    Loss of heterozygosity analysis at the <i>BRCA</i> loci in tumor samples from patients with familial breast cancer od Ana Osório, Miguel de la Hoya, Raquel Rodríguez‐López, Ángel Martínez‐Ramírez, Alicia Cazorla, Juan José Granizo, Manel Esteller, Carmen Rivas, Trinidad Caldés, Javier Benı́tez

    Wydane 2002
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  3. 3
    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 od 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

    Wydane 2025
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  4. 4
    Correlation between response to neoadjuvant chemotherapy and survival in locally advanced breast cancer patients

    Correlation between response to neoadjuvant chemotherapy and survival in locally advanced breast cancer patients od Atocha Romero, José Á. García-Sáenz, Manuel Fuentes, José Antonio López García‐Asenjo, Vicente Furió, J.M. Román, A. Moreno, Miguel de la Hoya, Eduardo Díaz‐Rubio, Miguel Martín, Trinidad Caldés

    Wydane 2012
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  5. 5
    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 od 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

    Wydane 2008
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  6. 6
    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 od Atocha Romero, Miguel Martín, Maggie C.U. Cheang, José Antonio López García‐Asenjo, Belén Oliva, Xiaping He, Miguel de la Hoya, José Á. García-Sáenz, Manuel Arroyo Fernández, Eduardo Díaz‐Rubio, Charles M. Perou, Trinidad Caldés Llopis

    Wydane 2011
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  7. 7
    Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

    Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families od Maria J. García, María Victoria Fernández, Ana Osório, Alicia Barroso, Gemma Llort, Conxi Lázaro, Ignacio Blanco, Trinidad Caldés, Miguel de la Hoya, Teresa Ramón y Cajal, Carmen Alonso, María‐Isabel Tejada, Carlos Román, Luis A. Díaz‐Robles, Miguel Urioste, Javier Benı́tez

    Wydane 2008
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  8. 8
    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? od Alejandro Moles‐Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López‐Perolio, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco, Adrià López‐Fernández, Neda Stjepanovic, Judith Balmañà, Gabriel Capellà, Marta Pineda, Ana Vega, Conxi Lázaro, Miguel de la Hoya, Orland Dı́ez, Sara Gutiérrez‐Enríquez

    Wydane 2018
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  9. 9
    Oral Contraceptives and Breast Cancer Risk in the International <i>BRCA1/2</i> Carrier Cohort Study: A Report From EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

    Oral Contraceptives and Breast Cancer Risk in the International <i>BRCA1/2</i> Carrier Cohort Study: A Report From EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group od Richard M. Brohet, David E. Goldgar, Douglas F. Easton, Antonis C. Antoniou, Nadine Andrieu, Jenny Chang‐Claude, Susan Peock, Rosalind A. Eeles, Margaret Cook, Carol Chu, Catherine Noguès, Christine Lasset, Pascaline Berthet, Hanne Meijers‐Heijboer, Anne‐Marie Gerdes, Håkan Olsson, Miguel de la Hoya, Flora E. van Leeuwen, Matti A. Rookus

    Wydane 2007
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  10. 10
    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 od 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

    Wydane 2013
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  11. 11
    BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance

    BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance od Diana Eccles, Gillian Mitchell, Álvaro N.A. Monteiro, Rita K. Schmutzler, Fergus J. Couch, Amanda B. Spurdle, E. Gómez, Ronald H. Driessen, Noralane M. Lindor, Marinus J. Blok, Pål Møller, Miguel de la Hoya, Tuya Pal, S. M. Domchek, Katherine L. Nathanson, Christi J. van Asperen, Orland Dı́ez, K. Rheim, Dominique Stoppa‐Lyonnet, Michael T. Parsons, David E. Goldgar

    Wydane 2015
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  12. 12
    Classification of BRCA1 missense variants of unknown clinical significance

    Classification of BRCA1 missense variants of unknown clinical significance od Catherine M. Phelan, Vesna Đapic, B. G. Tice, Reyna Favis, Edmond S.K., Francis Barany, Siranoush Manoukian, Paolo Radice, Rob B. van der Luijt, Bernadette P. M. van Nesselrooij, Georgia Chenevix‐Trench, No Value kConFab, Trinidad Caldés, Miguel de la Hoya, S Lindquist, Sean V. Tavtigian, David E. Goldgar, Åke Borg, Steven A. Narod, Álvaro N.A. Monteiro

    Wydane 2005
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  13. 13
    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 od 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

    Wydane 2011
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  14. 14
    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 od 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

    Wydane 2003
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  15. 15
    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium od Mara Colombo, Marinus J. Blok, Phillip J Whiley, Marta Santamariña, Sara Gutiérrez‐Enríquez, Atocha Romero, Pilar Garré, Alexandra Becker, Lindsay Smith, Giovanna De Vecchi, Rita D. Brandão, Demis Tserpelis, Melissa A. Brown, Ana Blanco, Sandra Bonache, Mireia Menéndez, Claude Houdayer, Claudia Foglia, James D. Fackenthal, Diana Baralle, Barbara Wappenschmidt, Eduardo Díaz‐Rubio, Trinidad Caldés, Logan C. Walker, Orland Dı́ez, Ana Vega, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

    Wydane 2014
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  16. 16
    Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

    Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair od Núria Seguí, Leonardo Mina, Conxi Lázaro, Rebeca Sanz‐Pamplona, Tirso Pons, Matilde Navarro, Fernando Bellido, Adriana López‐Doriga, Rafael Valdés‐Mas, Marta Pineda, Elisabet Guinó, August Vidal, José Luís Soto, Miguel de la Hoya, M. Durán, Miguel Urioste, Daniel Rueda, Joan Brunet, Milagros Balbı́n, Pilar Blay, Sílvia Iglesias, Pilar Garré, Enrique Lastra, Ana Beatriz Sánchez‐Heras, Alfonso Valencia, Vı́ctor Moreno, Miguel Ángel Pujana, Alberto Villanueva, Ignacio Blanco, Gabriel Capellà, Jordi Surrallés, Xosé S. Puente, Laura Valle

    Wydane 2015
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  17. 17
    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 od 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

    Wydane 2009
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  18. 18
    Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

    Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles od Francisco Javier Gracia-Aznárez, María Victoria Fernández, Guillermo Pita, Paolo Peterlongo, Orlando Domı́nguez, Miguel de la Hoya, M. Durán, Ana Osório, Leticia T. Moreno, Anna González‐Neira, Juan Manuel Rosa-Rosa, Olga M. Sinilnikova, Sylvie Mazoyer, John L. Hopper, Conchi Lazaro, Melissa C. Southey, Fabrice Odefrey, Siranoush Manoukian, Irene Catucci, Trinidad Caldés, Henry T. Lynch, Florentine Hilbers, Christi J. van Asperen, Hans F. A. Vasen, David E. Goldgar, Paolo Radice, Peter Devilee, Javier Benı́tez

    Wydane 2013
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  19. 19
    Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples

    Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples od James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang, Gorka Ruíz de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha Ayoub, Kumar Lal, Olufunmilayo I. Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C. Walker, Irene López‐Perolio, Mads Thomassen, Michael T. Parsons, Phillip J Whiley, Marinus J. Blok, Rita D. Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez‐Enríquez, Orland Dı́ez, Conxi Lázaro, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

    Wydane 2016
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  20. 20
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup od Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Wydane 2023
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