Supplementary Table S1 from Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

Autor: Jaclyn A. Biegel, Tamim H. Shaikh, Hongbo Xie, Juan Carlos Perin, Laura Tooke, Alexander R. Judkins, Hakon Hakonarson, Xiaowu Gai, Angela J. Sievert, Eric M. Jackson

Supplementary Table S1 from Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f887c7359bc23bef05d12e222c95850
https://doi.org/10.1158/1078-0432.22440526

Paradoxical activation and RAF inhibitor resistance of BRAF protein kinase fusions characterizing pediatric astrocytomas

Autor: Phillip B. Storm, Katie Boucher, Meghan Kellet, Angela J. Sievert, Erin Slaunwhite, Shih-Shan Lang, Adam C. Resnick, Namrata Choudhari, Peter J. Madsen

Publikováno v: Proceedings of the National Academy of Sciences. 110:5957-5962

Astrocytomas are the most common type of brain tumors in children. Activated BRAF protein kinase mutations are characteristic of pediatric astrocytomas with KIAA1549-BRAF fusion genes typifying low-grade astrocytomas and V600E BRAF alterations charac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd496126ece59eddb9d059706ccd74ea
https://doi.org/10.1073/pnas.1219232110

Genomic Analysis Using High-Density Single Nucleotide Polymorphism-Based Oligonucleotide Arrays and Multiplex Ligation-Dependent Probe Amplification Provides a Comprehensive Analysis of INI1/SMARCB1 in Malignant Rhabdoid Tumors

Autor: Alexander R. Judkins, Xiaowu Gai, Jaclyn A. Biegel, Angela J. Sievert, Laura S. Tooke, Hakon Hakonarson, Eric M. Jackson, Hongbo Xie, Juan C. Perin, Tamim H. Shaikh

Publikováno v: Clinical Cancer Research. 15:1923-1930

Purpose: A high-resolution genomic profiling and comprehensive targeted analysis of INI1/SMARCB1 of a large series of pediatric rhabdoid tumors was done. The aim was to identify regions of copy number change and loss of heterozygosity (LOH) that migh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4189b8346b64197ecfe23d13e0c60af1
https://doi.org/10.1158/1078-0432.ccr-08-2091

Anti-N-methyl-D-aspartate receptor-mediated encephalitis in infants and toddlers: case report and review of the literature

Autor: Angela J. Sievert, Maarten J. Titulaer, Peter de Blank, Nicole Ryan, Ethan M. Goldberg

Publikováno v: Pediatric Neurology, 50(2), 181-184. Elsevier Inc.

Background Anti- N -methyl-D-aspartate receptor encephalitis is an increasingly well-recognized inflammatory encephalitis in children and adults. Patient We report a previously healthy 21-month-old girl who presented with behavioral change, self-muti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b897ec0424659df2c2ef98d8f43b789
https://pubmed.ncbi.nlm.nih.gov/24315538

Contributors

Autor: Saba Ahmad, Craig A. Alter, Brett R. Anderson, Marsha Ayzen, Rochelle Bagatell, H. Jorge Baluarte, Vaneeta Bamba, David R. Bearden, Ulf H. Beier, Lauren A. Beslow, Shazia Bhat, Christopher P. Bonafide, Jill L. Brodsky, Naomi Brown, Jason B. Caboot, Andrew C. Calabria, Leslie Castelo-Soccio, Ann Chahroudi, David Chao, Kathryn Chatfield, Lori A. Christ, Andrew Chu, R. Thomas Collins, Lawrence Copelovitch, Jennifer A. Danzig, Carrie Daymont, Diva D. DeLeón, Michelle Denburg, Melissa Desai, Erin Pete Devon, Aaron Donoghue, Nicholas Evageliou, Mirna M. Farah, Kristen A. Feemster, James Aaron Feinstein, Amy Feldman, Ryan J. Felling, John J. Flibotte, Stephen G. Flynn, Elizabeth E. Foglia, Lisa Forbes, Jackie P.D. Garrett, Laura Gober, Michael D. Gober, Kelly C. Goldsmith, Monika Goyal, Abby Green, Adda Grimberg, Chad R. Haldeman-Englert, E. Kevin Hall, Fiona Healy, Jessica L. Hills, Melissa A. Hofmann, Daniel B. Horton, Anna Hunter, Elif E. Ince, Reena Jethva, Anitha S. John, Amanda Jones, Eden Kahle, Jennifer M. Kalish, Melissa Kennedy, Soorena Khojasteh, Roy J. Kim, Dorit Koren, Matthew P. Kronman, David R. Langdon, Christopher LaRosa, Javier J. Lasa, Lara Wine Lee, Melissa Leyva-Vega, Scott M. Lieberman, Jessica Sparks Lilley, Julie M. Linton, Elizabeth Lowenthal, Sheela N. Magge, Jennifer Mangino, Olivera Marsenic, Pamela A. Mazzeo, Jennifer L. McGuire, Paul McNally, Jane E. Minturn, Manoj K. Mittal, Melissa Mondello, Kathryn M. Murphy, Sage Myers, Frances Nadel, Kyle Nelson, Gustavo Nino, Bettina Mucha-Le Ny, Michael L. O’Byrne, Vikash S. Oza, Andrew A. Palladino, Shefali Parikh, Tara Petersen, Amy L. Peterson, Connie M. Piccone, Sara E. Pinney, Jill Posner, Kari R. Posner, Madhura Pradhan, Ryan M. Raffaelli, Homaira Rahimi, Kristin N. Ray, Susan R. Rheingold, Nicole Ryan, Benjamin A. Sahn, Esther Maria Sampayo, Matthew G. Sampson, Alisa B. Schiffman, Dana Aronson Schinasi, Sandra Schwab, Halden F. Scott, Jeffrey A. Seiden, Dana Sepe, Nilika B. Shah, Rachana Shah, Samir S. Shah, Eric D. Shelov, Angela J. Sievert, Sanjeev K. Swami, Christina Lynch Szperka, Kathryn S. Taub, Alexis Teplick, Deepika Thacker, Oana Tomescu, Howard Topol, Shamir Tuchman, Levon H. Utidjian, Carly R. Varela, Shirley D. Viteri, Amy T. Waldman, Elizabeth M. Wallis, Daniel A. Weiser, Jessica Wen, Deborah Whitney, Jennifer J. Wilkes, Kamillah Wood, Courtney J. Wusthoff, Joyce Yang, Mark R. Zonfrillo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2427243626be50e8b3758861a59d8cf
https://doi.org/10.1016/b978-1-4377-1155-4.00136-x