Resultados da busca - Nelly Sabbaghian
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DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma por Jonathan D. Wasserman, Nelly Sabbaghian, Somayyeh Fahiminiya, Rose Chami, Özgür Mete, Meryl Acker, Mona K. Wu, Adam Shlien, Leanne de Kock, William D. Foulkes
Publicado em 2018Artigo -
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Analysis of the Gene Coding for the BRCA2-Interacting Protein PALB2 in Familial and Sporadic Pancreatic Cancer por Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Ayelet Borgida, Chaim Rosner, Nassim Taherian, Archana Srivastava, Spring Holter, Heidi Rothenmund, Parviz Ghadirian, William D. Foulkes, Steven Gallinger
Publicado em 2009Carta -
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Exploring the Association Between<i>DICER1</i>Mutations and Differentiated Thyroid Carcinoma por Leanne de Kock, Nelly Sabbaghian, Dorothée Bouron‐Dal Soglio, R. Paul Guillerman, Byung‐Kiu Park, Rose Chami, Cheri Deal, John R. Priest, William D. Foulkes
Publicado em 2014Artigo -
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Rare germline mutations in<i>PALB2</i>and breast cancer risk: A population-based study por Marc Tischkowitz, Marinela Capanu, Nelly Sabbaghian, Lili Li, Xiaolin Liang, Maxime Vallée, Sean V. Tavtigian, Patrick Concannon, William D. Foulkes, Leslie Bernstein, Jonine L. Bernstein, Colin B. Begg
Publicado em 2012Artigo -
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Biallelic <i><scp>DICER1</scp></i> mutations occur in Wilms tumours por MK Wu, Nelly Sabbaghian, Bin Xu, S Addidou‐Kalucki, C. Bernard, Donghui Zou, AE Reeve, MR Eccles, Catherine Cole, CS Choong, Adrian Charles, Tiong Yang Tan, DM Iglesias, PR Goodyer, William D. Foulkes
Publicado em 2013Artigo -
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A PALB2 mutation associated with high risk of breast cancer por Melissa C. Southey, Zhi L. Teo, James G. Dowty, Fabrice Odefrey, Daniel J. Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham Byrnes, Ingrid Winship, Laura Baglietto, Graham G. Giles, David E. Goldgar, William D. Foulkes, John L. Hopper
Publicado em 2010Artigo -
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Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women por William D. Foulkes, Parviz Ghadirian, Mohammed Reza Akbari, Nancy Hamel, Sylvie Giroux, Nelly Sabbaghian, Andrew D. Darnel, Robert E. Royer, Aletta Poll, Eve Fafard, André Robidoux, G. Martin, Tarek A. Bismar, Marc Tischkowitz, François Rousseau, Steven A. Narod
Publicado em 2007Artigo -
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Extending the phenotypes associated with<i>DICER1</i>mutations por William D. Foulkes, Amin Bahubeshi, Nancy Hamel, Barbara Pasini, Sofia Asioli, Gareth Baynam, Catherine S. Choong, Adrian Charles, Richard P. Frieder, Megan K. Dishop, Nicole Graf, Mesiha Ekim, Dorothée Bouron‐Dal Soglio, Jocelyne Arseneau, Robert H. Young, Nelly Sabbaghian, Archana Srivastava, Marc Tischkowitz, John R. Priest
Publicado em 2011Artigo -
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Analysis of<i>PALB2</i>/<i>FANCN</i>-associated breast cancer families por Marc Tischkowitz, Bing Xia, Nelly Sabbaghian, Jorge S. Reis‐Filho, Nancy Hamel, Guilan Li, Erik H. van Beers, Lili Li, Tayma Khalil, Louise Quenneville, Atilla Ömeroğlu, Aletta Poll, Patricia Lepage, Nora Wong, Petra M. Nederlof, Alan Ashworth, Patricia N. Tonin, Steven A. Narod, David M. Livingston, William D. Foulkes
Publicado em 2007Artigo -
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Clinical Outcomes and Complications of Pituitary Blastoma por Anthony P. Y. Liu, Megan M. Kelsey, Nelly Sabbaghian, Sung‐Hye Park, Cheri Deal, Adam J. Esbenshade, Oswald Ploner, Andrew C. Peet, Heidi Traunecker, Yomna Ahmed, Margaret Zacharin, Anatoly Tiulpakov, А. М. Лапшина, Andrew W. Walter, Pinaki Dutta, Ashutosh Rai, Márta Korbonits, Leanne de Kock, Kim E. Nichols, William D. Foulkes, John R. Priest
Publicado em 2020Artigo -
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<emph type="ital">DICER1</emph> Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors por Thomas Rio Frio, Amin Bahubeshi, Chryssa Kanellopoulou, Nancy Hamel, Marek Niedziela, Nelly Sabbaghian, Carly Pouchet, Lucy Gilbert, Paul O'Brien, Kim Serfas, Peter Broderick, Richard S. Houlston, Fabienne Lesueur, Elena Bonora, Stefan A. Muljo, R. Neil Schimke, Dorothée Bouron‐Dal Soglio, Jocelyne Arseneau, Kris Ann P. Schultz, John R. Priest, Văn Hùng Nguyễn, H. Rubén Harach, David M. Livingston, William D. Foulkes, Marc Tischkowitz
Publicado em 2011Artigo -
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Germ-line and somatic DICER1 mutations in pineoblastoma por Leanne de Kock, Nelly Sabbaghian, Harriet Druker, Evan Weber, Nancy Hamel, S. Miller, Catherine S Choong, Nicholas G. Gottardo, Ursula R. Kees, Surya P. Rednam, Liselotte P. van Hest, Marjolijn C.J. Jongmans, Shalini N. Jhangiani, James R. Lupski, Margaret Zacharin, Dorothée Bouron‐Dal Soglio, Annie Huang, John R. Priest, Arie Perry, Sabine Mueller, Steffen Albrecht, David Malkin, Richard G. Grundy, William D. Foulkes
Publicado em 2014Artigo -
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High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome por 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
Publicado em 2015Artigo -
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DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis por 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
Publicado em 2019Artigo -
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Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations por Leanne de Kock, Nelly Sabbaghian, François Plourde, Archana Srivastava, Evan Weber, Dorothée Bouron‐Dal Soglio, Nancy Hamel, Joon Hyuk Choi, Sung‐Hye Park, Cheri Deal, Megan M. Kelsey, Megan K. Dishop, Adam J. Esbenshade, John F. Kuttesch, Thomas S. Jacques, Arie Perry, Heinz E. Leichter, Philippe Maeder, Marie‐Anne Bründler, Justin Warner, James Neal, Margaret Zacharin, Márta Korbonits, Trevor Cole, Heidi Traunecker, Thomas W. McLean, Fabio Rotondo, Pierre Lepage, Steffen Albrecht, Éva Horváth, Kálmán Kovács, John R. Priest, William D. Foulkes
Publicado em 2014Artigo
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Assuntos relacionados
Biology
Gene
Genetics
Germline mutation
Medicine
Mutation
Cancer research
Germline
Internal medicine
Cancer
Allele
Loss of heterozygosity
Oncology
Somatic cell
Breast cancer
PALB2
Pathology
Environmental health
Missense mutation
Population
Proband
Exon
Family history
Molecular biology
Phenotype
Thyroid
Thyroid cancer
Thyroid carcinoma
Adjuvant therapy
BRCA2 Protein