Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 507 Records) |
Query Trace: NF1[original query] |
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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency. Journal of medical genetics 2023 9 . Léa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq, Christelle Dufour, Erell Guillerm, Etienne Rouleau, Pascale Varlet, Saïma Zili, Dominique Vidaud, Jacques Gri |
Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes. Genes 2023 9 14 (9): . Gabriela Telman, Ewa Strauss, Patrycja Sosnowska-Sienkiewicz, Magdalena Halasz, Danuta Januszkiewicz-Lewandows |
Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy. Journal of neuro-oncology 2023 9 . Archis R Bhandarkar, Shaan Bhandarkar, Dusica Babovic-Vuksanovic, Ian F Parney, Robert J Spinn |
Higher 13-Gene-Estimated TMB Detected from Plasma ctDNA is Associated with Worse Outcome for T-Cell Lymphoma Patients. Advanced biology 2023 9 e2300042. Cunte Chen, Ling Huang, Zheng Chen, Qiuxiang Ou, Sichu Liu, Xinmiao Jiang, Feili Chen, Xiaojuan Wei, Hanguo Guo, Yang Shao, Chengwu Zeng, Yangqiu Li, Wenyu |
The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches. Gynecologic oncology 2023 9 177 86-94. Dimitrios Nasioudis, Marta Llaurado Fernandez, Nelson Wong, Daniel J Powell, Gordon B Mills, Shannon Westin, Amanda N Fader, Mark S Carey, Fiona Simpki |
Genomic and tumour microenvironmental biomarkers of immune checkpoint inhibitor response in advanced Taiwanese melanoma. Clinical & translational immunology 2023 8 12 (8): e1465. John Wen-Cheng Chang, Chien-Jung Huang, Wen-Kuan Huang, Yu-Chao Wang, Jia-Juan Hsieh, Yao-Yu Chang, Yen-Lin Huang, Chia-Ling Wu, Yeh-Han Wang, Shu-Jen Chen, Kien Thiam Tan, Chiao-Ping Chen, Chiao-En |
Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors. Cancer cell international 2023 8 23 (1): 187. Hai-Yun Wang, Ye Liu, Ling Deng, Kuntai Jiang, Xin-Hua Yang, Xiao-Yan Wu, Kai-Hua Guo, Fang Wa |
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes. Journal of medical genetics 2023 8 . Nathalia de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria Lisboa Maia, Felipe D'Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecilia Maria Lima da Costa, José Claudio Casali da Rocha, Barbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrez |
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations. medRxiv : the preprint server for health sciences 2023 8 . Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, Carrie Horton, Jill S Dolinsky, Amal Yussuf, Marcy Richardson, Virginia Speare, Shuwei Li, Zoe C Bogus, Maria Bonanni, Anna Raper, Staci Kallish, Marylyn D Ritchie, , , Katherine L Nathanson, Theodore G Driv |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
Molecular Results and Potential Biomarkers Identified from the Phase 3 MILO/ENGOT-ov11 Study of Binimetinib vs Physician Choice of Chemotherapy in Recurrent Low-Grade Serous Ovarian Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 8 . Rachel N Grisham, Ignace Vergote, Susana Banerjee, Esther Drill, Elsa Kalbacher, Mansoor Raza Mirza, Ignacio Romero, Peter Vuylsteke, Robert L Coleman, Felix Hilpert, Amit M Oza, Anneke Westermann, Martin K Oehler, Sandro Pignata, Carol Aghajanian, Nicoletta Colombo, David Cibula, Kathleen N Moore, Josep M Del Campo, Regina Berger, Christian Marth, Jalid Sehouli, David M O'Malley, Cristina Churruca, Gunnar Kristensen, Andrew Clamp, John Farley, Gopakumar Iyer, Isabelle Ray-Coquard, Bradley J Mo |
Comparative genomic analysis of PIK3R1-mutated and wild-type breast cancers. Breast cancer research and treatment 2023 12 . Melody A Cobleigh, Kayla Viets Layng, Elizabeth Mauer, Brett Mahon, Adam J Hockenberry, Abde M Abukhde |
Druggable genomic landscapes of high-grade gliomas. Frontiers in medicine 2023 12 10 1254955. Paola Ghanem, Maria Fatteh, David Olayinka Kamson, Archana Balan, Michael Chang, Jessica Tao, Jaishri Blakeley, , Jenna Canzoniero, Stuart A Grossman, Kristen Marrone, Karisa C Schreck, Valsamo Anagnost |
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort. Journal of neurology 2023 12 . Beiyao Zhu, Tingting Zheng, Wei Wang, Yihui Gu, Chengjiang Wei, Qingfeng Li, Zhichao Wa |
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans. Molecular genetics & genomic medicine 2023 12 e2332. Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañ |
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup. British journal of haematology 2023 11 . Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flot |
Molecular profiles of different PD-L1 expression in patients with esophageal squamous cell carcinoma. Cancer biology & therapy 2023 11 24 (1): 2256927. Songchen Zhao, Xintong Hu, Peiwen Zhou, Ang Li, Liguo Chen, Duo Wang, Jiaxue He, Yanfang Jia |
Genomic profiling of primary and metastatic thyroid cancers. Endocrine-related cancer 2023 11 . Valdemar Maximo, Miguel Melo, Yingjie Zhu, Andrea Gazzo, Manuel Sobrinho Simões, Arnaud Da Cruz Paula, Paula Soar |
Co-occurring Alterations in Multiple Tumor Suppressor Genes are Associated with Worse Outcomes in Patients with EGFR-mutant Lung Cancer. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2023 10 . Paul Stockhammer, Michael Grant, Anna Wurtz, Giorgia Foggetti, F Expósito, Jianlei Gu, Hongyu Zhao, Jungmin Choi, Sangyun Chung, Fangyong Li, Zenta Walther, Julia Dietz, Emily Duffield, Scott Gettinger, Katerina Politi, Sarah B Goldbe |
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants. Pediatric neurology 2023 10 149 69-74. Yasar Bildirici, Ayca Kocaaga, Cefa Nil Karademir-Arslan, Sevgi Yimeniciog |
Somatic Mutation of the Non-Muscle-Invasive Bladder Cancer Associated with Early Recurrence. Diagnostics (Basel, Switzerland) 2023 10 13 (20): . Seong Hyeon Yu, Sung Sun Kim, Hyungki Lee, Shinseung Kim, Taek Won Ka |
Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients. The British journal of dermatology 2023 10 . Laurence Pacot, Audrey Sabbagh, Pierre Sohier, Djihad Hadjadj, Manuela Ye, Anne Boland-Auge, Delphine Bacq-Daian, Ingrid Laurendeau, Audrey Briand-Suleau, Jean-François Deleuze, Raphaël Margueron, Michel Vidaud, Salah Ferkal, Béatrice Parfait, Dominique Vidaud, , Eric Pasmant, Pierre Wolkenste |
Disease progression, survival, and molecular disparities in Black and White patients with endometrioid endometrial carcinoma in real-world registries and GOG/NRG oncology randomized phase III clinical trials. Gynecologic oncology 2024 4 183 103-114. Zachary A Kopelman, Chunqiao Tian, Jordyn Tumas, Neil T Phippen, Christopher M Tarney, Erica R Hope, Stuart S Winkler, Suzanne Jokajtys, Calen W Kucera, John K Chan, Michael T Richardson, Daniel S Kapp, Chad A Hamilton, Charles A Leath, Nathaniel L Jones, Rodney P Rocconi, John H Farley, Angeles Alvarez Secord, Casey M Cosgrove, Matthew A Powell, Ann Klopp, Joan L Walker, Gini F Fleming, Nicholas W Bateman, Thomas P Conrads, G Larry Maxwell, Kathleen M Dar |
Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience. Molecular diagnosis & therapy 2024 4 . Youngeun Lee, Soo Hyun Seo, Jinho Kim, Sang-A Kim, Ji Yun Lee, Jeong-Ok Lee, Soo-Mee Bang, Kyoung Un Park, Sang Mee Hwa |
Mutational landscape of oral mucosal melanoma based on comprehensive cancer genomic profiling tests in a Japanese cohort. Oral oncology 2024 4 152 106807. Norihisa Ichimura, Yusuke Urata, Takeru Kobayashi, Hideharu Hi |
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations. Cancers 2024 4 16 (7): . Alexandra M Haugh, Robert C Osorio, Rony A Francois, Michael E Tawil, Katy K Tsai, Michael Tetzlaff, Adil Daud, Harish N Vasudev |
NF1-Driven Rhabdomyosarcoma Phenotypes: A Comparative Clinical and Molecular Study of NF1-Mutant Rhabdomyosarcoma and NF1-Associated Malignant Triton Tumor. JCO precision oncology 2024 4 8 e2300597. Henry de Traux de Wardin, Josephine K Dermawan, Fabio Vanoli, Samuel C Jiang, Samuel Singer, Ping Chi, William Tap, Leonard H Wexler, Cristina R Antones |
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype. Frontiers in genetics 2024 4 15 1331278. Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krau |
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors. Cancer science 2024 1 . Toshirou Nishida, Yoichi Naito, Tsuyoshi Takahashi, Takuro Saito, Shigeo Hisamori, Dai Manaka, Katsuhiro Ogawa, Seiichi Hirota, Hitoshi Ichika |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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