检索结果 - Timothée Revil
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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS 由 Donna M. McDonald‐McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata Nowakowska, Joshua A. Suhl, Alice Bailey, Elisabeth E. Mlynarski, David R. Lynch, Albert C. Yan, Larissa T. Bilaniuk, Kathleen E. Sullivan, Stephen T. Warren, Beverly S. Emanuel, Joris Vermeesch, Elaine H. Zackai, Loydie A. Jerome‐Majewska
出版 2012Artigo -
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A Targetable EGFR-Dependent Tumor-Initiating Program in Breast Cancer 由 Paul Savage, Alexis Blanchet-Cohen, Timothée Revil, Dunarel Badescu, Sadiq M.I. Saleh, Yu-Chang Wang, Dongmei Zuo, Leah Liu, Nicholas Bertos, Valentina Muñoz-Ramos, Mark Basik, Kevin Petrecca, Jamil Asselah, Sarkis Meterissian, Marie‐Christine Guiot, Atilla Ömeroğlu, Claudia L. Kleinman, Morag Park, Jiannis Ragoussis
出版 2017Artigo -
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Analysis of head and neck carcinoma progression reveals novel and relevant stage-specific changes associated with immortalisation and malignancy 由 Ratna Veeramachaneni, Thomas D. J. Walker, Timothée Revil, Antoine de Weck, Dunarel Badescu, James O’Sullivan, Catherine Higgins, Louise Elliott, Triantafillos Liloglou, Janet M. Risk, Richard Shaw, Lynne Hampson, Ian Hampson, Simon Dearden, Robert Woodwards, Stephen S. Prime, Keith D. Hunter, Eric Kenneth Parkinson, Jiannis Ragoussis, Nalin Thakker
出版 2019Artigo -
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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome 由 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
出版 2015Artigo -
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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome 由 Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth Bhoj, A. Micheil Innes, Ryan E. Lamont, Edmond G. Lemire, Bernard N. Chodirker, Juliet Taylor, Elaine H. Zackai, D. Ross McLeod, Edwin P. Kirk, Julie Hoover‐Fong, Leah R. Fleming, Ravi Savarirayan, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Jacek Majewski, Loydie A. Jerome‐Majewska, Jillian S. Parboosingh, François Bernier
出版 2014Artigo -
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Whole‐exome sequencing of non‐ <i>BRCA1/BRCA2</i> mutation carrier cases at high‐risk for hereditary breast/ovarian cancer 由 Paula Silva Felicio, Rebeca Silveira Grasel, Natália Campacci, Andre Escremin de Paula, Henrique C.R. Galvão, Giovana Tardin Torrezan, Cristina S. Sabato, Gabriela Carvalho Fernandes, Cristiano de Pádua Souza, Rodrigo D. Michelli, Carlos Eduardo Mattos Cunha Andrade, Bruna Durães de Figueiredo Barros, Marcus Matsushita, Timothée Revil, Jiannis Ragoussis, Fergus J. Couch, Steven N. Hart, Rui Manuel Reis, Matias Eliseo Melendez, Patricia N. Tonin, Dirce Maria Carraro, Edenir Inêz Palmero
出版 2020Artigo -
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DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis 由 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
出版 2019Artigo
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Biology
Gene
Genetics
Alternative splicing
RNA
RNA splicing
Cancer
Cell biology
Exon
Medicine
Molecular biology
Breast cancer
Cancer research
Gene isoform
Heterogeneous nuclear ribonucleoprotein
Allele
Internal medicine
Loss of heterozygosity
Minigene
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Ribonucleoprotein
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splice
Apoptosis
Biochemistry
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CDKN2A
CHEK2
Carcinogenesis