Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Catherine, Goudie"'
Autor:
Emilie Montellier, Nathanaël Lemonnier, Judith Penkert, Claire Freycon, Sandrine Blanchet, Amina Amadou, Florent Chuffart, Nicholas W. Fischer, Maria-Isabel Achatz, Arnold J. Levine, Catherine Goudie, David Malkin, Gaëlle Bougeard, Christian P. Kratz, Pierre Hainaut
Publikováno v:
iScience, Vol 27, Iss 12, Pp 111296- (2024)
Summary: Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic TP53 germline variants. We used a clustering method to assign TP53 missense variants to classes based on their
Externí odkaz:
https://doaj.org/article/bb9a114b6fd34501b168dd0f04451138
Autor:
Sandra Judd, Gabriel Revon‐Riviere, Stephanie A. Grover, Rebecca J. Deyell, Magimairajan Issai Vanan, Victor A. Lewis, Lucie Pecheux, Alexandra P. Zorzi, Catherine Goudie, Raoul Santiago, Thai Hoa Tran, Lesleigh S. Abbott, Josee Brossard, Paul Moorehead, Saima Alvi, Carol Portwine, Avram Denburg, James A. Whitlock, Sarah Cohen‐Gogo, Daniel A. Morgenstern
Publikováno v:
Cancer Medicine, Vol 13, Iss 3, Pp n/a-n/a (2024)
Abstract Background The need for new therapies to improve survival and outcomes in pediatric oncology along with the lack of approval and accessible clinical trials has led to “out‐of‐trial” use of innovative therapies. We conducted a retrosp
Externí odkaz:
https://doaj.org/article/ed6f3e4aa5bc4ea2ad6a15650609498b
Autor:
Leora Witkowski, Laura Palma, Evan Weber, Alexandre Rouette, Loubna Jouan, Andrea Liliam Gomez Corredor, Lara Reichman, Thai-Hoa Tran, Sonia Cellot, William Foulkes, Anne-Marie Laberge, Vincent-Philippe Lavallée, Catherine Goudie
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100997- (2024)
Externí odkaz:
https://doaj.org/article/ebf1af968d5f4f378976fe7da83e82b5
Autor:
Elise Poole, Stephanie Luca, Daniel Assamad, Bowen Xiao, Joyce Yan, Pooja Banglorewala, Cheryl Xia, Wendy Ungar, Lesleigh Abbott, Linlea Armstrong, Patricia Birch, Kym Boycott, June Carroll, Lauren Chad, David Chitayat, Avram Denburg, Rebecca Deyell, Alison Elliott, Catherine Goudie, Anne-Marie Laberge, Melissa Maio, Iskra Peltekova, Becky Quinlan, Sarah Sawyer, Rachel Silver, Maureen Smith, Ronni Teitelbaum, Anita Villani, Tasha Wainstein, Robin Hayeems
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101430- (2024)
Externí odkaz:
https://doaj.org/article/1e78d49730174030a90893c2cb696643
Autor:
Maria Apellaniz‐Ruiz, Noelle Cullinan, Ronald Grant, Paula Marrano, John R Priest, Paul S Thorner, Catherine Goudie, William D Foulkes
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 6, Iss 3, Pp 185-194 (2020)
Abstract Individuals with DICER1 syndrome, a genetic disorder caused by pathogenic germline variants in DICER1, are at increased risk of developing a wide array of predominantly childhood onset conditions, including genitourinary sarcomas. However, d
Externí odkaz:
https://doaj.org/article/2defc2be66724d54a6e782ab02758269
Autor:
Steffen Albrecht, Barbara Miedzybrodzki, Laura Palma, Van Hung Nguyen, Roy W.R. Dudley, Torsten Pietsch, Tobias Goschzik, Nada Jabado, Catherine Goudie, William D. Foulkes
Publikováno v:
Free Neuropathology, Vol 3 (2022)
Cowden syndrome (CS) is an autosomal dominant hamartoma and tumor predisposition syndrome caused by heterozygous pathogenic germline variants in PTEN in most affected individuals. Major features include macrocrania, multiple facial tricholemmomas, ac
Externí odkaz:
https://doaj.org/article/a049d1d22d2d46be910ef5921046b451
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
Autor:
Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W. Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D. Anderson, Arun K. Ramani, Kyoko E. Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D. Wasserman, Rosemarie E. Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A. Whitlock, Stephen W. Scherer, Kathy Chun, Martin J. Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramaswamy, Gino R. Somers, Lianna Kyriakopoulou, Johann Hitzler, Mary Shago, Daniel A. Morgenstern, Uri Tabori, Stephen Meyn, Meredith S. Irwin, David Malkin, Adam Shlien
Publikováno v:
Nature Cancer. 4:203-221
We conducted integrative somatic–germline analyses by deeply sequencing 864 cancer-associated genes, complete genomes and transcriptomes for 300 mostly previously treated children and adolescents/young adults with cancer of poor prognosis or with r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc564393b318b298215f3cddc8037c8
https://doi.org/10.1038/s43018-022-00474-y
https://doi.org/10.1038/s43018-022-00474-y
Autor:
Justine Morin, Joanne Delaney, Gabriela De Carvalho Nunes, Jessica Simoneau, Marc Beltempo, Catherine Goudie, Isabelle Malhamé, Gabriel Altit
Publikováno v:
Journal of Perinatology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8627d42ff7ce4f780f9744d6008e1fab
https://doi.org/10.1038/s41372-023-01644-1
https://doi.org/10.1038/s41372-023-01644-1
Autor:
W Glenn, McCluggage, Colin J R, Stewart, Neza Lebic, Belcijan, Stephanie, Mourad, Catherine, Goudie, Joshua C K, Chan, Anthony, Liu, Rita, Alaggio, William D, Foulkes
Publikováno v:
Human Pathology. 123:46-58
Many sarcomas with DICER1 pathogenic variants (PVs) exhibit a characteristic morphology, including a subepithelial layer of malignant mesenchymal cells, areas of rhabdomyoblastic differentiation and cartilaginous and/or osseous elements. We report 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1d684d7f73b14aa354ce12845993cf4
https://doi.org/10.1016/j.humpath.2022.02.018
https://doi.org/10.1016/j.humpath.2022.02.018
Autor:
Meziane Brizini, Lamia Naccache, Pauline Tibout, Catherine Goudie, Crystal Budd, Stéphanie Vairy, Marie-Claude Brisson, Thai Hoa Tran, Raoul Santiago
Pazopanib, a receptor tyrosine kinase inhibitor, exhibits anti-tumor activity in adult bone and soft-tissue sarcomas (STS), but has not yet been approved for pediatric tumors. The primary objective was to evaluate pazopanib efficacy when used alone o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b83e772268eb589fab5419a085180770
