Výsledky vyhledávání - Bárbara Rivera

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  1. 1
    Biallelic <i>NTHL1</i> Mutations in a Woman with Multiple Primary Tumors

    Biallelic <i>NTHL1</i> Mutations in a Woman with Multiple Primary Tumors Autor Bárbara Rivera, Ester Castellsagué, Ismaël Bah, Léon C.L.T. van Kempen, William D. Foulkes

    Vydáno 2015
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  2. 2
    Conocimiento, actitudes y creencias de los padres ante la fiebre en niños

    Conocimiento, actitudes y creencias de los padres ante la fiebre en niños Autor Bárbara Rivera-Fernández-Galán, Julieta Rodríguez De Ita, Bárbara M. Garza-Ornelas, Karla Lorena Chávez-Caraza

    Vydáno 2022
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  3. 3
    Prevalence and Spectrum of <i>DICER1</i> Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology

    Prevalence and Spectrum of <i>DICER1</i> Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology Autor Anne‐Sophie Chong, Yuri E. Nikiforov, Vincenzo Condello, Abigail I. Wald, Marina N. Nikiforova, William D. Foulkes, Bárbara Rivera

    Vydáno 2021
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  4. 4
    A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

    A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia Autor Bárbara Rivera, José Perea, Eduardo Vilar Sanchez, Manuel Villapun, E. Sánchez-Tomé, Fátima Mercadillo, Mercedes Robledo, Javier Benı́tez, Miguel Urioste

    Vydáno 2013
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  5. 5
    Age at Onset Should Be a Major Criterion for Subclassification of Colorectal Cancer

    Age at Onset Should Be a Major Criterion for Subclassification of Colorectal Cancer Autor José Perea, Daniel Rueda, Alicia Canal, Yolanda Rodríguez, Edurne Álvaro, Irene Osorio, C. Alegre, Bárbara Rivera, Joaquín Martínez‐López, Javier Benı́tez, Miguel Urioste

    Vydáno 2013
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  6. 6
    Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations

    Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations Autor Rebecca D. Chernock, Bárbara Rivera, Nicla Borrelli, D. Ashley Hill, Somayyeh Fahiminiya, Tasha Shah, Anne‐Sophie Chong, Barina Aqil, Mitra Mehrad, Thomas J. Giordano, Rachel Sheridan, Meilan M. Rutter, Louis P. Dehner, William D. Foulkes, Yuri E. Nikiforov

    Vydáno 2020
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  7. 7
    Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes

    Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes Autor Nathália de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria L. Maia, Felipe D’Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecília Maria Lima da Costa, José Cláudio Casali da Rocha, Bárbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrezan

    Vydáno 2023
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  8. 8
    A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

    A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families Autor Oriol Calvete, Paula Martínez, Pablo García‐Pavía, Carlos Benitéz‐Buelga, Beatriz Paumard‐Hernández, María Victoria Fernández, Fernándo Domínguez, Clara Salas, Nuria Romero-Laorden, Jesús García-Donás, Jaime Carrillo, Rosario Perona, Juan Carlos Triviño, Raquel Andrés, Juana María Cano, Bárbara Rivera, Luis Alonso‐Pulpón, Fernando Setién, Manel Esteller, Sandra Rodríguez, Gaëlle Bougeard, T Frebourg, Miguel Urioste, Marı́a A. Blasco, Javier Benı́tez

    Vydáno 2015
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  9. 9
    TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

    TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw Autor Carolina Cavaliéri Gomes, Tenzin Gayden, Andrea Bajic, Osama F. Harraz, Jonathan Pratt, Hamid Nikbakht, Eric Bareke, Marina Gonçalves Diniz, Wagner Henriques Castro, Pascal St-Onge, Daniel Sinnett, HyeRim Han, Bárbara Rivera, Leonie G. Mikael, Nicolas Jay, Claudia L. Kleinman, Elvis Terci Valera, Angelia V. Bassenden, Albert M. Berghuis, Jacek Majewski, Mark T. Nelson, Ricardo Santiago Gomez, Nada Jabado

    Vydáno 2018
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  10. 10
    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome Autor Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Bárbara Rivera, Nelly Sabbaghian, Mona K. Wu, Evan Weber, Claudio Sandoval, Saskia Hopman, Johannes H. M. Merks, Johanna M. van Hagen, Antonia H. Bouts, David A. Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R. Priest, Jiannis Ragoussis, William D. Foulkes

    Vydáno 2015
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  11. 11
    The genetic landscape of choroid plexus tumors in children and adults

    The genetic landscape of choroid plexus tumors in children and adults Autor Christian Thomas, Patrick Soschinski, Melissa Zwaig, Spyridon Oikonomopoulos, Konstantin Okonechnikov, Kristian W. Pajtler, Martin Sill, Leonille Schweizer, Arend Koch, Julia E. Neumann, Ulrich Schüller, Felix Sahm, Laurèl Rauschenbach, Kathy Keyvani, Martin Proescholdt, Markus J. Riemenschneider, Jochen Segewiß, Christian Rückert, Oliver Grauer, Camelia‐Maria Monoranu, Katrin Lamszus, Annarita Patrizi, Uwe Kordes, Reiner Siebert, Marcel Kool, Jiannis Ragoussis, William D. Foulkes, Werner Paulus, Bárbara Rivera, Martin Hasselblatt

    Vydáno 2020
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  12. 12
    DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

    DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis Autor Bárbara Rivera, Javad Nadaf, Somayyeh Fahiminiya, María Apellániz-Ruiz, Avi Saskin, Anne‐Sophie Chong, Sahil Sharma, Rabea Wagener, Timothée Revil, Vincenzo Condello, Zineb Harra, Nancy Hamel, Nelly Sabbaghian, Karl Muchantef, Christian Thomas, Leanne de Kock, Marie‐Noëlle Hébert‐Blouin, Angelia V. Bassenden, Hannah Rabenstein, Özgür Mete, Ralf Paschke, Marc Pusztaszeri, Werner Paulus, Albert M. Berghuis, Jiannis Ragoussis, Yuri E. Nikiforov, Reiner Siebert, Steffen Albrecht, Robert Turcotte, Martin Hasselblatt, Marc R. Fabian, William D. Foulkes

    Vydáno 2019
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  13. 13
    Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

    Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas Autor Elvis Terci Valera, Melissa K. McConechy, Tenzin Gayden, Bárbara Rivera, David Jones, Andrea Wittmann, HyeRim Han, Eric Bareke, Hamid Nikbakht, Leonie G. Mikael, R.G.P. Queiroz, V.K. Suazo, Ji Hoon Phi, Seung-Ki Kim, Sung‐Hye Park, Raita Fukaya, Mi‐Sun Yum, Tae‐Sung Ko, Ricardo Santos de Oliveira, Hélio Rubens Machado, María Sol Brassesco, Antonio Carlos do Santos, Gustavo Novelino Simão, Leandra Náira Zambelli Ramalho, Luciano Neder, Carlos Alberto Scrideli, Luíz Gonzaga Tone, Jacek Majewski, Nada Jabado

    Vydáno 2018
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  14. 14
    Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

    Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors Autor Bárbara Rivera, Tenzin Gayden, Jian Carrot‐Zhang, Javad Nadaf, Talia Boshari, Damien Faury, Michele Zeinieh, R. Blanc, David L. Burk, Somayyeh Fahiminiya, Eric Bareke, Ulrich Schüller, Camelia M. Monoranu, Ronald Sträter, Kornelius Kerl, Thomas Niederstadt, Gerhard Kurlemann, Benjamin Ellezam, Zuzanna Michalak, Maria Thom, Paul J. Lockhart, Richard J. Leventer, Milou Ohm, Duncan MacGregor, David Jones, Jason Karamchandani, Celia M.T. Greenwood, Albert M. Berghuis, Susanne Bens, Reiner Siebert, Magdalena Zakrzewska, Paweł P. Liberski, Krzysztof Zakrzewski, Sanjay M. Sisodiya, Werner Paulus, Steffen Albrecht, Martin Hasselblatt, Nada Jabado, William D. Foulkes, Jacek Majewski

    Vydáno 2016
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  15. 15
    Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

    Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype Autor Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed, Maartje Nielsen, Robbert D.A. Weren, Claire Palles, Marjolijn J. L. Ligtenberg, Janet R. Vos, Sanne W. ten Broeke, Noel F.C.C. de Miranda, Renske Kuiper, Eveline J. Kamping, Erik A. M. Jansen, M. Elisa Vink-Börger, I Popp, Alois Lang, Isabel Spier, Robert Hüneburg, Paul A. James, Na Li, Marija Staninova, Helen Lindsay, D.J. Cockburn, Olivera Spasić-Bošković, Mark Clendenning, Kevin Sweet, Gabriel Capellà, Wenche Sjursen, Hildegunn Høberg‐Vetti, Marjolijn C.J. Jongmans, Kornelia Neveling, Ad Geurts van Kessel, Hans Morreau, Frederik J. Hes, Rolf H. Sijmons, Hans K. Schackert, Clara Ruíz-Ponte, Dagmara Dymerska, Jan Lubiński, Bárbara Rivera, William D. Foulkes, Ian Tomlinson, Laura Valle, Daniel D. Buchanan, Sue Kenwrick, Julian Adlard, Aleksandar Dimovski, Ian Campbell, Stefan Aretz, Detlev Schindler, Tom van Wezel, Nicoline Hoogerbrugge, Roland P. Kuiper

    Vydáno 2019
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  16. 16
    Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>

    Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i> Autor Xin Yang, Honglin Song, Goska Leslie, Christoph Engel, Eric Hahnen, Bernd Auber, Judit Horváth, Karin Kast, Dieter Niederacher, Clare Turnbull, Richard S. Houlston, Helen Hanson, Chey Loveday, Jill S. Dolinsky, Holly LaDuca, Susan J. Ramus, Usha Menon, Adam N. Rosenthal, Ian Jacobs, Simon A. Gayther, Ed Dicks, Heli Nevanlinna, Kristiina Aittomäki, Liisa M. Pelttari, Hans Ehrencrona, Åke Borg, Anders Kvist, Bárbara Rivera, Thomas van Overeem Hansen, Malene Djursby, Andrew Lee, Joe Dennis, David D.L. Bowtell, Nadia Traficante, Orland Dı́ez, Judith Balmañà, Stephen B. Gruber, Georgia Chenevix‐Trench, kConFab Investigators, Allan Jensen, Susanne K. Kjær, Estrid Høgdall, Laurent Castéra, Judy E. Garber, Ramūnas Janavičius, Ana Osório, Lisa Golmard, Ana Vega, Fergus J. Couch, Mark E. Robson, Jacek Gronwald, Susan M. Domchek, Julie O. Culver, Miguel de la Hoya, Douglas F. Easton, William D. Foulkes, Marc Tischkowitz, Alfons Meindl, Rita K. Schmutzler, Paul D.P. Pharoah, Antonis C. Antoniou

    Vydáno 2020
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  17. 17
    Homologous recombination DNA repair defects in PALB2-associated breast cancers

    Homologous recombination DNA repair defects in PALB2-associated breast cancers Autor Anqi Li, Felipe C. Geyer, Pedro Blecua, Ju Youn Lee, Pier Selenica, David Brown, Fresia Pareja, Simon S. K. Lee, Rahul Kumar, Bárbara Rivera, Rui Bi, Salvatore Piscuoglio, Hannah Y. Wen, John R. Lozada, Rodrigo Gularte‐Mérida, Luca Cavallone, Zoulikha Rezoug, Tú Nguyen‐Dumont, Paolo Peterlongo, Carlo Tondini, Thorkild Terkelsen, Karina Rønlund, Susanne E. Boonen, Arto Mannerma, Robert Winqvist, Markéta Janatová, Pathmanathan Rajadurai, Bing Xia, Larry Norton, Mark E. Robson, Pei-Sze Ng, Lai‐Meng Looi, Melissa C. Southey, Britta Weigelt, Teo Soo-Hwang, Marc Tischkowitz, William D. Foulkes, Jorge S. Reis‐Filho, Morteza Aghmesheh, David J. Amor, Leslie Andrews, Yoland Antill, Rosemary L. Balleine, Jonathan Beesley, Anneke C. Blackburn, Michael Bogwitz, Matthew A. Brown, Matthew Burgess, Jo Burke, Phyllis Butow, Liz Caldon, Ian Campbell, Alice Christian, Christine L. Clarke, Paul A. Cohen, Ashley Crook, James Cui, Margaret C. Cummings, Sarah‐Jane Dawson, Anna de Fazio, Martin B. Delatycki, Alexander Dobrovic, Tracy Dudding, Pascal H. G. Duijf, Edward Edkins, Stacey L. Edwards, Gelareh Farshid, Andrew Fellows, Michael Field, James M. Flanagan, Peter C.C. Fong, John Forbes, Laura Forrest, Stephen B. Fox, Juliet D. French, Michael Friedlander, David Gallego‐Ortega, Michael Gattas, Graham G. Giles, Grantley Gill, Margaret Gleeson, Sian Greening, Eric Haan, Marion Harris, Nicholas K. Hayward, Ian B. Hickie, John L. Hopper, Clare Hunt, Paul A. James, Mark A. Jenkins, Richard Kefford, Maira Kentwell, Judy Kirk, James Kollias, Sunil R. Lakhani, Geoffrey J. Lindeman, Lara Lipton, Lizz Lobb, Sheau Wen Lok, Finlay Macrea

    Vydáno 2019
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