Søgeresultater - María‐Isabel Tejada

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  1. 1
    Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

    Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) af Stephanie L. Sherman, Eliza Curnow, Charles A. Easley, Peng Jin, Renate K. Hukema, María‐Isabel Tejada, Rob Willemsen, Karen Usdin

    Udgivet 2014
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  2. 2
    X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation af Irene Madrigal, Laia Rodríguez‐Revenga, Lluı́s Armengol, Eva González‐Roca, Benjamí Rodríguez, Célia Bádenas, Aurora Sánchez, Francisco Martı́nez, Míriam Guitart, Isabel Fernández-Carvajal, JA Arranz, María‐Isabel Tejada, LA Pérez-Jurado, Xavier Estivill, Montserrat Milà

    Udgivet 2007
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  3. 3
    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 af 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

    Udgivet 2008
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  4. 4
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability af Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, María‐Isabel Tejada, Jozef Gécz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin B. Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger E. Stevenson, Charles E. Schwartz, James Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Matthew E. Hurles, F. Lucy Raymond

    Udgivet 2015
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  5. 5
    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 af 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

    Udgivet 2013
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  6. 6
    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 af 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

    Udgivet 2011
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  7. 7
    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 af 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

    Udgivet 2009
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  8. 8
    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome af Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Kaiser, Aglaia Vignoli, Rainer Rossi, M.P. Botella, Magdalena Budişteanu, Mónica Roselló, Carmen Orellana, María‐Isabel Tejada, Sorina Mihaela Papuc, O. Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, K. Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela‐Stanek, Ludwig Gortner, Francisco Martı́nez, Bernard Échenne, V. Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth

    Udgivet 2015
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  9. 9
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation af Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    Udgivet 2012
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  10. 10
    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 af 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

    Udgivet 2008
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  11. 11
    A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation af Patrick Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O’Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matthew J. Blow, Chris Greenman, Yali Xue, Chris Tyler‐Smith, Deborah J. Thompson, Kristian Gray, J. M. Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, R. James Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon W. Teague, Adam P. Butler, Andy Jenkinson, Mingming Jia, David S. Richardson, Rebecca Shepherd, Richard Wooster, María‐Isabel Tejada, Francisco Martı́nez, Gemma L. Carvill, René Goliath, Arjan P.M. de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans‐Hilger Ropers, Fatima Abidi, Anand K. Srivastava, James J. Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F. Easton, Jackie Boyle, M. W. Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E. Stevenson, Martin Bobrow, Gillian Turner, Charles E. Schwartz, Jozef Gécz, F. Lucy Raymond, P. Andrew Futreal, Michael R. Stratton

    Udgivet 2009
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  12. 12
    Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer

    Association of Type and Location of<i>BRCA1</i>and<i>BRCA2</i>Mutations With Risk of Breast and Ovarian Cancer af Timothy R. Rebbeck, Nandita Mitra, Fei Wan, Olga M. Sinilnikova, Sue Healey, Lesley McGuffog, Sylvie Mazoyer, Georgia Chenevix‐Trench, Douglas F. Easton, Antonis C. Antoniou, Katherine L. Nathanson, Yael Laitman, Anya Kushnir, Shani Paluch‐Shimon, Raanan Berger, Jamal Zidan, Eitan Friedman, Hans Ehrencrona, Marie Stenmark‐Askmalm, Zakaria Einbeigi, Niklas Loman, Katja Harbst, Johanna Rantala, Beatrice Melin, Dezheng Huo, Olufunmilayo I. Olopade, Joyce Seldon, Patricia A. Ganz, Robert L. Nussbaum, Salina Chan, Kunle Odunsi, Simon A. Gayther, Susan M. Domchek, Banu K. Arun, Karen H. Lu, Gillian Mitchell, Beth Y. Karlan, Christine Walsh, Jenny Lester, Andrew K. Godwin, Harsh B. Pathak, Eric A. Ross, Mary B. Daly, Alice S. Whittemore, Esther M. John, Alexander Miron, Mary Beth Terry, Wendy K. Chung, David E. Goldgar, Saundra S. Buys, Ramūnas Janavičius, Laima Tihomirova, Nadine Tung, Cecilia M. Dorfling, Elizabeth J. van Rensburg, Linda Steele, Susan L. Neuhausen, Yuan Chun Ding, Bent Ejlertsen, Anne‐Marie Gerdes, Thomas van Overeem Hansen, Teresa Ramón y Cajal, Ana Osório, Javier Benı́tez, Javier Godino, María‐Isabel Tejada, M. Durán, Jeffrey N. Weitzel, Kristie Bobolis, Sharon Sand, Annette Campbell Fontaine, Antonella Savarese, Barbara Pasini, Bernard Peissel, Bernardo Bonanni, Daniela Zaffaroni, Francesca Vignolo-Lutati, Giulietta Scuvera, Giuseppe Giannini, Loris Bernard, Maurizio Genuardi, Paolo Radice, Riccardo Dolcetti, Siranoush Manoukian, Valeria Pensotti, Viviana Gismondi, Drakoulis Yannoukakos, Florentia Fostira, Judy E. Garber, Diana Torres, Muhammad Usman Rashid, Ute Hamann, Susan Peock, Debra Frost, Radka Platte, D. Gareth Evans, Rosalind A. Eeles, Rosemarie Davidson, Diana Eccles, Trevor Cole

    Udgivet 2015
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  13. 13
    Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction

    Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction af Antonis C. Antoniou, Jonathan Beesley, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Susan L. Neuhausen, Yuan Chun Ding, Timothy R. Rebbeck, Jeffrey N. Weitzel, Henry T. Lynch, Claudine Isaacs, Patricia A. Ganz, Gail E. Tomlinson, Olufunmilayo I. Olopade, Fergus J. Couch, Xianshu Wang, Noralane M. Lindor, V. Shane Pankratz, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Monica Barile, Alessandra Viel, Anna Allavena, Valentina Dall’Olio, Paolo Peterlongo, Csilla I. Szabo, Michal Zikán, Kathleen Claes, Bruce Poppe, Lenka Foretová, L. Phuong, Mark H. Greene, Gad Rennert, Flavio Lejbkowicz, Gord Glendon, Hilmi Özçelik, Irene L. Andrulis, Mads Thomassen, Anne‐Marie Gerdes, Lone Sunde, Dorthe Gylling Crüger, Uffe Birk Jensen, Maria A. Caligo, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Maya Dubrovsky, Shimrit Cohen, Åke Borg, Helena Jernström, Annika Lindblom, Johanna Rantala, Marie Stenmark-Askmalm, Beatrice Melin, Katherine L. Nathanson, Susan M. Domchek, Anna Jakubowska, Jan Lubiński, Tomasz Huzarski, Ana Osório, Adriana Lasa, M. Durán, María‐Isabel Tejada, Javier Godino, Javier Benı́tez, Ute Hamann, Mieke Kriege, Nicoline Hoogerbrugge, Rob B. van der Luijt, Christi J. van Asperen, Peter Devilee, E.J. Meijers-Heijboer, Marinus J. Blok, Cora M. Aalfs, Frans B.L. Hogervorst, Matti A. Rookus, Margaret Cook, Clare Oliver, Debra Frost, Don Conroy, D. Gareth Evans, Fiona Lalloo, Gabriella Pichert, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Shirley Hodgson, Patrick J. Morrison, Mary Porteous, Lisa Walker, Michael J. Kennedy, Huw Dorkins, Susan Peock, Andrew K. Godwin, Dominique Stoppa‐Lyonnet, Antoine De Pauw

    Udgivet 2010
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  14. 14
    Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers

    Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers af Fergus J. Couch, Mia M. Gaudet, Antonis C. Antoniou, Susan J. Ramus, Karoline Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaohong Chen, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Olga M. Sinilnikova, Irene L. Andrulis, Hilmi Özçelik, Anna Marie Mulligan, Mads Thomassen, Anne‐Marie Gerdes, Uffe Birk Jensen, Anne‐Bine Skytte, Torben A. Kruse, Maria A. Caligo, Anna von Wachenfeldt, Gisela Barbany, Niklas Loman, Maria Soller, Hans Ehrencrona, Per Karlsson, Katherine L. Nathanson, Timothy R. Rebbeck, Susan M. Domchek, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Cezary Cybulski, Bohdan Górski, Ana Osório, M. Durán, María‐Isabel Tejada, Javier Benı́tez, Ute Hamann, Frans B.L. Hogervorst, Theo A. van Os, Flora E. van Leeuwen, Hanne Meijers‐Heijboer, Juul Wijnen, Marinus J. Blok, Marleen Kets, Maartje J. Hooning, Rogier A. Oldenburg, Margreet G.E.M. Ausems, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Chris Jacobs, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Carole Brewer, Fiona Douglas, Shirley V. Hodgson, Patrick J. Morrison, Lisa Walker, Mary Porteous, Esther M. John, Lucy Side, Betsy Bove, Andrew K. Godwin, Dominique Stoppa‐Lyonnet, Marion Fassy-Colcombet, Laurent Castéra, François Cornelis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry‐Kryza, Brigitte Bressac–de Paillerets, Olivier Caron, Pascal Pujol, Isabelle Coupier, Capucine Delnatte, Linda Akloul, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary B. Daly, Mary Beth Terry

    Udgivet 2012
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