Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 151 Records) |
| Query Trace: Disease and NF1[original query] |
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| 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 |
| 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 |
| Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1. Ideggyogyaszati szemle 2023 7 76 (7-8): 270-274. Evlice Ahmet, Bi?gin At?l, Koç Fil |
| Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort. Acta oto-laryngologica 2023 6 1-7. Simon I Angeli, Juan A Chiossone K, Stefania Goncalves, Fred F Telisc |
| Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants. Balkan medical journal 2023 4 . Marija Gjorgjievska, Gjorgji Bozhinovski, Elena Sukarova-Angelovska, Mirjana Kocova, Lejla Muaremoska Kanzoska, Dijana Plaseska-Karanfils |
| Trametinib in Patients With NF1-, GNAQ-, or GNA11-Mutant Tumors: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols S1 and S2. JCO precision oncology 2023 4 7 e2200421. Wisinski Kari B, Flamand Yael, Wilson Melissa A, Luke Jason J, Tawbi Hussein A, Hong Fangxin, Mitchell Edith P, Zwiebel James A, Chen Helen, Gray Robert J, Li Shuli, McShane Lisa M, Rubinstein Lawrence V, Patton David, Williams P Mickey, Hamilton Stanley R, Behrens Robert J, Pennington Kathryn P, Conley Barbara A, Arteaga Carlos L, Harris Lyndsay N, O'Dwyer Peter J, Chen Alice P, Flaherty Keith |
| Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. Diagnostics (Basel, Switzerland) 2023 4 13 (7): . de Rivas Marta Orejudo, Gabás Javier Mateo, Cabeza Miguel Ángel Torralba, Floría Olivia Esteban, Latorre Raquel Herrero, Moscarda Eva Núñez, Clavería Julia Aramburu, Rivasés Guillermo Pérez, Puyuelo Javier Asca |
| 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 |
| 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 |
| 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 |
| 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 |
| The Association Between Breast Cancer Predisposing Genetic Variants and Multifocal, Multicentric Breast Cancer. Annals of surgical oncology 2024 9 . Mahtab Vasigh, Ahmed Mohamed, Lisa Jacobs, Julie Lange, Melissa Camp, Bonnie Sun, Pamela Wright, Maureen O'Donnell, Hanh-Tam Tran, Olutayo Sogunro, Mehran Habibi, Fabian Johnston, David Euh |
| Shortened progression free and overall survival to immune-checkpoint inhibitors in BRAF-, RAS- and NF1- ("Triple") wild type melanomas. European journal of cancer (Oxford, England : 1990) 2024 7 208 114208. Philipp Jansen, Wolfgang Galetzka, Georg C Lodde, Fabian Standl, Anne Zaremba, Rudolf Herbst, Patrick Terheyden, Jochen Utikal, Claudia Pföhler, Jens Ulrich, Alexander Kreuter, Peter Mohr, Ralf Gutzmer, Friedegund Meier, Edgar Dippel, Michael Weichenthal, Jan-Malte Placke, Jennifer Landsberg, Inga Möller, Antje Sucker, Annette Paschen, Eva Hadaschik, Lisa Zimmer, Elisabeth Livingstone, Dirk Schadendorf, Selma Ugurel, Andreas Stang, Klaus G Griewa |
| Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
| Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing. Annals of oncology : official journal of the European Society for Medical Oncology 2024 7 . C F Rowlands, S Allen, J Balmaña, S M Domchek, D G Evans, H Hanson, N Hoogerbrugge, P A James, K Nathanson, M Robson, M Tischkowitz, W D Foulkes, C Turnbu |
| Serial Cell-Free DNA Sequencing in ROS1 Fusion-Positive Lung Cancers During Treatment With Entrectinib. JCO precision oncology 2024 6 8 e2300721. Noura J Choudhury, Hyung Jun Woo, Monica Chen, Ronak Shah, Mark Donoghue, Michael Berger, Alexander Dril |
| Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer. Cancer medicine 2024 6 13 (12): e7384. Shang-Hung Chen, Ka-Po Tse, Yen-Jung Lu, Shu-Jen Chen, Yu-Feng Tian, Kien Thiam Tan, Chien-Feng |
| Molecular characterization of V(D)J rearrangements in immature acute leukemias. Leukemia research 2024 6 107521. Danielle Tavares Vianna, Barbara da Costa Reis Monte-Mór, Elda Pereira Noronha, Luciana Mayumi Gutiyama, Elaine Sobral da Costa, Maria S Pombo-de-Oliveira, Ilana Zalcbe |
| [Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature]. Problemy endokrinologii 2024 5 70 (2): 53-64. A Y Lugovskaya, T A Britvin, L E Gurevich, I S Rog, L N Nefedova, I A Ilovayska |
| 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 |
| Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma. Journal of the Endocrine Society 2024 4 8 (6): bvae059. Luciana Audi Castroneves, Flavia Regina Rotea Mangone, Antonio Marcondes Lerario, Ana Maria da Cunha Mercante, Rafael Loch Batista, Luciana Rodrigues Carvalho Barros, Carla Vaz Ferreira, Evelin Cavalcante Farias, Felipe Augusto Brasileiro Vanderlei, Ana Luiza Maia, Maria Aparecida Nagai, Alexander Augusto Lima Jorge, Ana Oliveira Ho |
| 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 |
| Genetic landscape of Romanian PPGLs. Journal of cellular and molecular medicine 2024 12 28 (23): e70204. Sofia-Maria Lider-Burciulescu, Monica Gheorghiu, Elena Braha, Laura Semonia Stanescu, Attila Patocs, Corin Bad |
| Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice. iScience 2024 11 27 (11): 111073. Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Go |
| Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe. Breast cancer research and treatment 2024 10 . Lalawmpuii Pachuau, H Lalremmawia, Lalengkimi Ralte, Johan Vanlalpeka, Jeremy Lalrinsanga Pautu, Saia Chenkual, Thomas Zomuana, Sailo Tlau Lalruatfela, John Zohmingthanga, Lalchhandama Chhakchhuak, Ashok K Varma, Nachimuthu Senthil Kum |
| Anti-Programmed Death Ligand 1 Plus Targeted Therapy in Anaplastic Thyroid Carcinoma: A Nonrandomized Clinical Trial. JAMA oncology 2024 10 . Maria E Cabanillas, Ramona Dadu, Renata Ferrarotto, Maria Gule-Monroe, Suyu Liu, Bryan Fellman, Michelle D Williams, Mark Zafereo, Jennifer R Wang, Charles Lu, Matthew Ning, Brian A McKinley, Scott E Woodman, Dzifa Duose, Gary B Gunn, Naifa L Busaidy, |
| Circulating tumor DNA in conjunctival melanoma: landscape and surveillance value. American journal of ophthalmology 2024 10 . Hao Tian, Hanhan Shi, Jie Chen, Tianyu Zhu, Ziyue Huang, Chunyan Zong, Shichong Jia, Jing Ruan, Shengfang Ge, Haihua Yuan, Yanjie Zhang, Bin Jiang, Rong Liu, Renbing Jia, Xianqun Fan, Shiqiong |
| Ancestry and somatic profile predict acral melanoma origin and prognosis. medRxiv : the preprint server for health sciences 2024 10 . Patricia Basurto-Lozada, Martha Estefania Vázquez-Cruz, Christian Molina-Aguilar, Amanda Jiang, Dekker C Deacon, Dennis Cerrato-Izaguirre, Irving Simonin-Wilmer, Fernanda G Arriaga-González, Kenya L Contreras-Ramírez, Eric T Dawson, J Rene C Wong-Ramirez, Johana Itzel Ramos-Galguera, Alethia Álvarez-Cano, Dorian Y García-Ortega, Omar Isaac García-Salinas, Alfredo Hidalgo-Miranda, Mireya Cisneros-Villanueva, Héctor Martínez-Said, Mark J Arends, Ingrid Ferreira, Mark Tullett, Rebeca Olvera-León, Louise van der Weyden, Martín Del Castillo Velasco Herrera, Rodrigo Roldán-Marín, Helena Vidaurri de la Cruz, Luis Alberto Tavares-de-la-Paz, Diego Hinojosa-Ugarte, Rachel L Belote, D Timothy Bishop, Marcos Díaz-Gay, Ludmil B Alexandrov, Yesennia Sánchez-Pérez, Gino K In, Richard M White, Patrícia A Possik, Robert L Judson-Torres, David J Adams, Carla Daniela Robles-Espino |
- Page last reviewed:Feb 1, 2024
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