Hasil Pencarian - Laura Fachal

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  1. 1
    Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.

    Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements. oleh Laura Fachal, Ana Blanco, Marta Santamariña, Angel Carracedo, Ana Vega

    Diterbitkan 2014-01-01
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  2. 2
    Multiple local and recent founder effects of TGM1 in Spanish families.

    Multiple local and recent founder effects of TGM1 in Spanish families. oleh Laura Fachal, Laura Rodríguez-Pazos, Manuel Ginarte, Jaime Toribio, Antonio Salas, Ana Vega

    Diterbitkan 2012-01-01
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  3. 3
    Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes.

    Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes. oleh Alberto Gómez-Carballa, Jacobo Pardo-Seco, Laura Fachal, Ana Vega, Miriam Cebey, Nazareth Martinón-Torres, Federico Martinón-Torres, Antonio Salas

    Diterbitkan 2013-01-01
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  4. 4
    Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

    Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect oleh Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega

    Diterbitkan 2019-06-01
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  5. 5
    Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.

    Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease. oleh Antonio Salas, Laura Fachal, Sonia Marcos-Alonso, Ana Vega, Federico Martinón-Torres, Grupo de investigación ESIGEM (Estudio Sobre la Influencia Genética en la Enfermedad Meningocócica)

    Diterbitkan 2009-12-01
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  6. 6
    Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

    Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. oleh Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, Laura Fachal, Ana Martín-Santiago, Asunción Vicente, David Jiménez-Gallo, Encarna Guillén-Navarro, Loreto Martorell Sampol, María Antonia González-Enseñat, Ana Vega

    Diterbitkan 2020-01-01
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  7. 7
    Chromatin interactome mapping at 139 independent breast cancer risk signals

    Chromatin interactome mapping at 139 independent breast cancer risk signals oleh Jonathan Beesley, Haran Sivakumaran, Mahdi Moradi Marjaneh, Luize G. Lima, Kristine M. Hillman, Susanne Kaufmann, Natasha Tuano, Nehal Hussein, Sunyoung Ham, Pamela Mukhopadhyay, Stephen Kazakoff, Jason S. Lee, Kyriaki Michailidou, Daniel R. Barnes, Antonis C. Antoniou, Laura Fachal, Alison M. Dunning, Douglas F. Easton, Nicola Waddell, Joseph Rosenbluh, Andreas Möller, Georgia Chenevix-Trench, Juliet D. French, Stacey L. Edwards

    Diterbitkan 2020-01-01
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  8. 8
    Non-coding RNAs underlie genetic predisposition to breast cancer

    Non-coding RNAs underlie genetic predisposition to breast cancer oleh Mahdi Moradi Marjaneh, Jonathan Beesley, Tracy A. O’Mara, Pamela Mukhopadhyay, Lambros T. Koufariotis, Stephen Kazakoff, Nehal Hussein, Laura Fachal, Nenad Bartonicek, Kristine M. Hillman, Susanne Kaufmann, Haran Sivakumaran, Chanel E. Smart, Amy E. McCart Reed, Kaltin Ferguson, Jodi M. Saunus, Sunil R. Lakhani, Daniel R. Barnes, Antonis C. Antoniou, Marcel E. Dinger, Nicola Waddell, Douglas F. Easton, Alison M. Dunning, Georgia Chenevix-Trench, Stacey L. Edwards, Juliet D. French

    Diterbitkan 2020-01-01
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  9. 9
    Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer

    Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer oleh Sarah L. Kerns, Leila Dorling, Laura Fachal, Søren Bentzen, Paul D.P. Pharoah, Daniel R. Barnes, Antonio Gómez-Caamaño, Ana M. Carballo, David P. Dearnaley, Paula Peleteiro, Sarah L. Gulliford, Emma Hall, Kyriaki Michailidou, Ángel Carracedo, Michael Sia, Richard Stock, Nelson N. Stone, Matthew R. Sydes, Jonathan P. Tyrer, Shahana Ahmed, Matthew Parliament, Harry Ostrer, Barry S. Rosenstein, Ana Vega, Neil G. Burnet, Alison M. Dunning, Gillian C. Barnett, Catharine M.L. West

    Diterbitkan 2016-08-01
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  10. 10
    A Deep Learning Approach Validates Genetic Risk Factors for Late Toxicity After Prostate Cancer Radiotherapy in a REQUITE Multi-National Cohort

    A Deep Learning Approach Validates Genetic Risk Factors for Late Toxicity After Prostate Cancer Radiotherapy in a REQUITE Multi-National Cohort oleh Michela Carlotta Massi, Michela Carlotta Massi, Francesca Gasperoni, Francesca Ieva, Francesca Ieva, Francesca Ieva, Anna Maria Paganoni, Anna Maria Paganoni, Anna Maria Paganoni, Paolo Zunino, Andrea Manzoni, Nicola Rares Franco, Liv Veldeman, Liv Veldeman, Piet Ost, Piet Ost, Valérie Fonteyne, Valérie Fonteyne, Christopher J. Talbot, Tim Rattay, Adam Webb, Paul R. Symonds, Kerstie Johnson, Maarten Lambrecht, Karin Haustermans, Gert De Meerleer, Dirk de Ruysscher, Dirk de Ruysscher, Ben Vanneste, Evert Van Limbergen, Evert Van Limbergen, Ananya Choudhury, Rebecca M. Elliott, Elena Sperk, Carsten Herskind, Marlon R. Veldwijk, Barbara Avuzzi, Tommaso Giandini, Riccardo Valdagni, Riccardo Valdagni, Riccardo Valdagni, Alessandro Cicchetti, David Azria, Marie-Pierre Farcy Jacquet, Barry S. Rosenstein, Barry S. Rosenstein, Richard G. Stock, Kayla Collado, Ana Vega, Ana Vega, Ana Vega, Miguel Elías Aguado-Barrera, Miguel Elías Aguado-Barrera, Patricia Calvo, Patricia Calvo, Alison M. Dunning, Laura Fachal, Laura Fachal, Sarah L. Kerns, Debbie Payne, Jenny Chang-Claude, Jenny Chang-Claude, Petra Seibold, Catharine M. L. West, Tiziana Rancati

    Diterbitkan 2020-10-01
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  11. 11
    Treatment time and circadian genotype interact to influence radiotherapy side-effects. A prospective European validation study using the REQUITE cohort

    Treatment time and circadian genotype interact to influence radiotherapy side-effects. A prospective European validation study using the REQUITE cohort oleh Adam J. Webb, Emily Harper, Tim Rattay, Miguel E. Aguado-Barrera, David Azria, Celine Bourgier, Muriel Brengues, Erik Briers, Renée Bultijnck, Jenny Chang-Claude, Ananya Choudhury, Alessandro Cicchetti, Dirk De Ruysscher, Maria Carmen De Santis, Alison M. Dunning, Rebecca M. Elliott, Laura Fachal, Antonio Gómez-Caamaño, Sara Gutiérrez-Enríquez, Kerstie Johnson, Ramón Lobato-Busto, Sarah L. Kerns, Giselle Post, Tiziana Rancati, Victoria Reyes, Barry S. Rosenstein, Petra Seibold, Alejandro Seoane, Paloma Sosa-Fajardo, Elena Sperk, Begoña Taboada-Valladares, Riccardo Valdagni, Ana Vega, Liv Veldeman, Tim Ward, Catharine M. West, R. Paul Symonds, Christopher J. Talbot

    Diterbitkan 2022-10-01
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  12. 12
    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease oleh Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Mohammad Karaminejadranjbar, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson

    Diterbitkan 2020-02-01
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  13. 13
    Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

    Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease oleh Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Eli M Carrami, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson

    Diterbitkan 2022-06-01
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  14. 14
    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants oleh Tokhir Dadaev, Edward J. Saunders, Paul J. Newcombe, Ezequiel Anokian, Daniel A. Leongamornlert, Mark N. Brook, Clara Cieza-Borrella, Martina Mijuskovic, Sarah Wakerell, Ali Amin Al Olama, Fredrick R. Schumacher, Sonja I. Berndt, Sara Benlloch, Mahbubl Ahmed, Chee Goh, Xin Sheng, Zhuo Zhang, Kenneth Muir, Koveela Govindasami, Artitaya Lophatananon, Victoria L. Stevens, Susan M. Gapstur, Brian D. Carter, Catherine M. Tangen, Phyllis Goodman, Ian M. Thompson, Jyotsna Batra, Suzanne Chambers, Leire Moya, Judith Clements, Lisa Horvath, Wayne Tilley, Gail Risbridger, Henrik Gronberg, Markus Aly, Tobias Nordström, Paul Pharoah, Nora Pashayan, Johanna Schleutker, Teuvo L. J. Tammela, Csilla Sipeky, Anssi Auvinen, Demetrius Albanes, Stephanie Weinstein, Alicja Wolk, Niclas Hakansson, Catharine West, Alison M. Dunning, Neil Burnet, Lorelei Mucci, Edward Giovannucci, Gerald Andriole, Olivier Cussenot, Géraldine Cancel-Tassin, Stella Koutros, Laura E. Beane Freeman, Karina Dalsgaard Sorensen, Torben Falck Orntoft, Michael Borre, Lovise Maehle, Eli Marie Grindedal, David E. Neal, Jenny L. Donovan, Freddie C. Hamdy, Richard M. Martin, Ruth C. Travis, Tim J. Key, Robert J. Hamilton, Neil E. Fleshner, Antonio Finelli, Sue Ann Ingles, Mariana C. Stern, Barry Rosenstein, Sarah Kerns, Harry Ostrer, Yong-Jie Lu, Hong-Wei Zhang, Ninghan Feng, Xueying Mao, Xin Guo, Guomin Wang, Zan Sun, Graham G. Giles, Melissa C. Southey, Robert J. MacInnis, Liesel M. FitzGerald, Adam S. Kibel, Bettina F. Drake, Ana Vega, Antonio Gómez-Caamaño, Laura Fachal, Robert Szulkin, Martin Eklund, Manolis Kogevinas, Javier Llorca, Gemma Castaño-Vinyals, Kathryn L. Penney, Meir Stampfer, Jong Y. Park, Thomas A. Sellers, Hui-Yi Lin, Janet L. Stanford, Cezary Cybulski, Dominika Wokolorczyk, Jan Lubinski, Elaine A. Ostrander, Milan S. Geybels, Børge G. Nordestgaard, Sune F. Nielsen, Maren Weisher, Rasmus Bisbjerg, Martin Andreas Røder, Peter Iversen, Hermann Brenner, Katarina Cuk, Bernd Holleczek, Christiane Maier, Manuel Luedeke, Thomas Schnoeller, Jeri Kim, Christopher J. Logothetis, Esther M. John, Manuel R. Teixeira, Paula Paulo, Marta Cardoso, Susan L. Neuhausen, Linda Steele, Yuan Chun Ding, Kim De Ruyck, Gert De Meerleer, Piet Ost, Azad Razack, Jasmine Lim, Soo-Hwang Teo, Daniel W. Lin, Lisa F. Newcomb, Davor Lessel, Marija Gamulin, Tomislav Kulis, Radka Kaneva, Nawaid Usmani, Chavdar Slavov, Vanio Mitev, Matthew Parliament, Sandeep Singhal, Frank Claessens, Steven Joniau, Thomas Van den Broeck, Samantha Larkin, Paul A. Townsend, Claire Aukim-Hastie, Manuela Gago-Dominguez, Jose Esteban Castelao, Maria Elena Martinez, Monique J. Roobol, Guido Jenster, Ron H. N. van Schaik, Florence Menegaux, Thérèse Truong, Yves Akoli Koudou, Jianfeng Xu, Kay-Tee Khaw, Lisa Cannon-Albright, Hardev Pandha, Agnieszka Michael, Andrzej Kierzek, Stephen N. Thibodeau, Shannon K. McDonnell, Daniel J. Schaid, Sara Lindstrom, Constance Turman, Jing Ma, David J. Hunter, Elio Riboli, Afshan Siddiq, Federico Canzian, Laurence N. Kolonel, Loic Le Marchand, Robert N. Hoover, Mitchell J. Machiela, Peter Kraft, The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Matthew Freedman, Fredrik Wiklund, Stephen Chanock, Brian E. Henderson, Douglas F. Easton, Christopher A. Haiman, Rosalind A. Eeles, David V. Conti, Zsofia Kote-Jarai

    Diterbitkan 2018-06-01
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