Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 323 Records) |
| Query Trace: Syndrome and TP53[original query] |
|---|
| Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: novel phenotype modifiers in Li-Fraumeni syndrome? Gene 2023 12 148069. Igor Araujo Vieira, Eduarda Heidrich Pezzi, Isabel Cristina Bandeira, Larissa Brussa Reis, Yasminne Marinho de Araújo Rocha, Bruna Vieira Fernandes, Marina Siebert, Kendi Nishino Miyamoto, Monique Banik Siqueira, Maria Isabel Achatz, Henrique de Campos Reis Galvão, Felipe Antonio O Garcia, Natalia Campacci, Dirce Maria Carraro, Maria Nirvana Formiga, Fernanda Sales Luiz Vianna, Edenir Inez Palmero, Gabriel S Macedo, Patricia Ashton-Prol |
| Risk Stratification in Older Intensively Treated Patients With AML. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2024 9 JCO2302631. Jurjen Versluis, Marlen Metzner, Ariel Wang, Patrycja Gradowska, Abin Thomas, Niels Asger Jakobsen, Alison Kennedy, Rachel Moore, Emma Boertjes, Christian M Vonk, Francois G Kavelaars, Melissa Rijken, Amanda Gilkes, Claire Schwab, H Berna Beverloo, Markus Manz, Otto Visser, Catharina H M J Van Elssen, Okke de Weerdt, Lidwine W Tick, Bart J Biemond, Marie-Christiane Vekemans, Sylvie D Freeman, Christine J Harrison, Jonathan A Cook, Mike Dennis, Steven Knapper, Ian Thomas, Charles Craddock, Gert J Ossenkoppele, Bob Löwenberg, Nigel Russell, Peter J M Valk, Paresh Vy |
| Genomic Landscape of Myelodysplastic/Myeloproliferative Neoplasms: A Multi-Central Study. International journal of molecular sciences 2024 9 25 (18): . Fei Fei, Amar Jariwala, Sheeja Pullarkat, Eric Loo, Yan Liu, Parastou Tizro, Haris Ali, Salman Otoukesh, Idoroenyi Amanam, Andrew Artz, Feras Ally, Milhan Telatar, Ryotaro Nakamura, Guido Marcucci, Michelle Afkha |
| The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome. Frontiers in genetics 2024 9 15 1440971. Yongzhen Guo, Guangwei Yan, Pei Zhang, Yixuan Liu, Chengquan Zhao, Xianxu Ze |
| Germline variant affecting p53? isoforms predisposes to familial cancer. Nature communications 2024 9 15 (1): 8208. Stephanie A Schubert, Dina Ruano, Sebastien M Joruiz, Jordy Stroosma, Nikolina Glavak, Anna Montali, Lia M Pinto, Mar Rodríguez-Girondo, Daniela Q C M Barge-Schaapveld, Maartje Nielsen, Bernadette P M van Nesselrooij, Arjen R Mensenkamp, Monique E van Leerdam, Thomas H Sharp, Hans Morreau, Jean-Christophe Bourdon, Noel F C C de Miranda, Tom van Wez |
| Prognostic impact of DTA mutation and co-occurring mutations in patients with myelodysplastic syndrome. Molecular biology reports 2024 9 51 (1): 985. Min Wang, Ping Chen, Daqi Li, Mingfeng Zh |
| The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
| WT1 gene mutations impact post-transplant relapse in myelodysplastic syndrome with excess blasts 2 patients. Annals of hematology 2024 7 . Wenwen Guo, Haixiao Zhang, Mingyang Wang, Yawei Zheng, Yigeng Cao, Xiaoyu Zhang, Weihua Zhai, Rongli Zhang, Donglin Yang, Jialin Wei, Yi He, Qiaoling Ma, Yonghui Xia, Aiming Pang, Sizhou Feng, Mingzhe Han, Erlie Jia |
| Influence of TP53 Gene Mutations and its Allelic Status in Myelodysplastic Syndromes with Isolated 5q Deletion. Blood 2024 7 . Maria Julia Montoro, Laura Palomo, Claudia Haferlach, Pamela Acha, Onyee Chan, Víctor Navarro, Yasuo Kubota, Felicitas Isabel Schulz, Manja Meggendorfer, Robert Briski, Najla Al-Ali, Blanca Xicoy, Felix Lopez, Francesc Bosch, Teresa González, Lea Naomi Eder, Andrés Jerez, Yu-Hung Hung Wang, Alessia Campagna, Valeria Santini, Teresa Bernal Del Castillo, Esperanza Such, Hwei-Fang Tien, Nicolás Díaz Varela, Uwe Platzbecker, Detlef Thomas Haase, María Díez-Campelo, Matteo Giovanni Della Porta, Guillermo Garcia-Manero, Daniel Howard Wiseman, Ulrich Germing, Jaroslaw P Maciejewski, Rami S Komrokji, Francesc Sole, Torsten Haferlach, David Valcárc |
| Ocular adnexal sebaceous carcinoma in a patient with Li-Fraumeni syndrome. Orbit (Amsterdam, Netherlands) 2024 7 1-5. Chia W Hsu, Cornelia W Peterson, Charles G Eberhart, Christian F Meyer, Deborah K Armstrong, Katie Fiallos, Ashley A Campbe |
| TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil. Genes 2024 7 15 (7): . Tatiana Strava Corrêa, Paula Fontes Asprino, Eduarda Sabá Cordeiro de Oliveira, Ana Carolina Rathsam Leite, Luiza Weis, Maria Isabel Achatz, Claudiner Pereira de Oliveira, Renata Lazari Sandoval, Romualdo Barroso-Sou |
| Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients. Cancers 2024 7 16 (14): . Ava Kwong, Cecilia Y S Ho, Chun-Hang Au, Edmond S K |
| High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands. Breast cancer (Tokyo, Japan) 2024 7 . Reiko Yoshida, Tomoko Kaneyasu, Arisa Ueki, Hideko Yamauchi, Shozo Ohsumi, Shinji Ohno, Daisuke Aoki, Shinichi Baba, Junko Kawano, Naomichi Matsumoto, Masao Nagasaki, Takayuki Ueno, Hitoshi Inari, Yusuke Kobayashi, Junko Takei, Osamu Gotoh, Mitsuyo Nishi, Miki Okamura, Keika Kaneko, Megumi Okawa, Misato Suzuki, Sayuri Amino, Mayuko Inuzuka, Tetsuo Noda, Seiichi Mori, Seigo Nakamu |
| [Effect of TP53 Allelic State on Clinical Performance and Prognosis of Patients with Myelodysplastic Syndrome]. Zhongguo shi yan xue ye xue za zhi 2024 6 32 (3): 811-818. Kai Shen, De-Yuan Hu, Su-Ning Ch |
| Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases. Breast cancer research and treatment 2024 6 . João Paulo Faria, Juliana Godoy Assumpção, Lorena de Oliveira Matos, Fernanda Caroline Soardi, Gabriel Pissolati Mattos Bretz, Eitan Friedman, Luiz De Mar |
| Chromothripsis in myeloid malignancies. Annals of hematology 2024 5 . Chien-Yuan Ch |
| Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence. Journal of the National Cancer Institute 2024 5 . Minjie Luo, Derek Wong, Kristin Zelley, Jinhua Wu, Jeffery Schubert, Elizabeth H Denenberg, Elizabeth A Fanning, Jiani Chen, Daniel Gallo, Netta Golenberg, Maha Patel, Laura K Conlin, Kara N Maxwell, Gerald B Wertheim, Lea F Surrey, Yiming Zhong, Garrett M Brodeur, Suzanne P MacFarland, Marilyn M |
| Genomic profiling of small bowel adenocarcinoma: a pooled analysis from 3 databases. British journal of cancer 2024 5 . Thomas Aparicio, Julie Henriques, Magali Svrcek, Aziz Zaanan, Sylvain Manfredi, Andrea Casadei-Gardini, David Tougeron, Jean-Marc Gornet, Marine Jary, Eric Terrebonne, Guillaume Piessen, Pauline Afchain, Cédric Lecaille, Marc Pocard, Thierry Lecomte, Margherita Rimini, Frédéric Di Fiore, Valérie Le Brun Ly, Stefano Cascinu, Dewi Vernerey, Pierre Laurent Pu |
| Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Acta neuropathologica communications 2024 4 12 (1): 57. Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Sai |
| Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome. iScience 2024 12 27 (12): 111296. 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 Haina |
| Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background. International journal of molecular sciences 2024 12 25 (23): . Petra Nagy, János Papp, Vince Kornél Grolmusz, Anikó Bozsik, Tímea Pócza, Edit Oláh, Attila Patócs, Henriett Bu |
| TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers. Journal of the National Cancer Institute 2024 12 . Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, Tom Walsh, Ming K Lee, Suleyman Gulsuner, Grace Rabie, Rachel Beeri, Amal Aburayyan, Jessica B Mandell, Hila Fridman, Galit Lazer-Derbeko, Tehila Klopstock, Orit Freireich, Amnon Lahad, Mary-Claire King, Ephrat Levy-Lahad, Moien N Kana |
| Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study. Journal of the anus, rectum and colon 2024 10 8 (4): 348-355. Akinari Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Hideki Ishikawa, Kiwamu Akagi, Hideyuki Ishi |
| Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study. Pathology 2024 10 . Simon Barbieux, Fanélie Jouenne, Marie-Christine Machet, Sylvie Fraitag, Nicolas Macagno, Maxime Battistella, Bernard Cribier, Pierre Sohier, Sara Laurent-Roussel, Agnès Carlotti, Fanny Beltzung, Marie-Laure Jullié, Isabelle Moulonguet, Nicole Basset-Seguin, Lydia Deschamps, Samia Mourah, Mahtab Samimi, Serge Guyétant, Thibault Kervarr |
| Li-Fraumeni-associated osteosarcomas: The French experience. Pediatric blood & cancer 2024 10 e31362. Emilie Saucier, Gaëlle Bougeard, Anne Gomez-Mascard, Catherine Schramm, Rachid Abbas, Pablo Berlanga, Claire Briandet, Marie-Pierre Castex, Nadège Corradini, Carole Coze, Léa Guerrini-Rousseau, Jean-Marc Guinebretière, Pierre Khneisser, Cyril Lervat, Ludovic Mansuy, Perrine Marec-Berard, Aude Marie-Cardine, Eric Mascard, Laure Saumet, Marie-Dominique Tabone, Sarah Winter, Thierry Frebourg, Nathalie Gaspar, Laurence Brugier |
| Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing. Pathology, research and practice 2024 1 254 155075. Seref Bugra Tuncer, Betul Celik, Seda Kilic Erciyas, Ozge Sukruoglu Erdogan, Busra Kurt Gültaslar, Demet Akdeniz Odemis, Mukaddes Avsar, Fatma Sen, P?nar Mualla Saip, Hulya Yazi |
| Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families. European journal of human genetics : EJHG 2025 1 . Meis Omran, Yaxuan Liu, Alexander Sun Zhang, Anna Poluha, Marie Stenmark-Askmalm, Fredrik Persson, Anna-Lotta Hallbeck, Anna Rosén, Hafdis T Helgadottir, Emma Tham, Svetlana Bajalica-Lagercran |
| Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population. Breast cancer research : BCR 2025 1 27 (1): 7. Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flor |
| TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate. Genome medicine 2025 1 17 (1): 3. Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló, Jesús Del Valle, Conxi Láza |
| [Analysis of Gene Mutation and Clinical Characteristics Related to Myelodysplastic Syndrome]. Zhongguo shi yan xue ye xue za zhi 2025 1 32 (6): 1798-1806. Yu-Feng Wang, Yan-Li Yang, Ying-Hua Ge |
- Page last reviewed:Feb 1, 2024
- Content source: