Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 141 Records) |
| Query Trace: Neurofibromatosis 2 and NF1[original query] |
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| [Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 9 38 (9): 829-832. Ge Lili, Zhang Yaodong, Liu Lei, Zheng Xuan, Chen Chongfen, Kong Jingh |
| Intragenic NF1 deletions in sinonasal mucosal malignant melanoma. Pigment cell & melanoma research 2021 Sep . Riobello Cristina, Casanueva Muruais Rodrigo, Suárez-Fernández Laura, García-Marín Rocío, Cabal Virginia N, Blanco-Lorenzo Verónica, Franchi Alessandro, Laco Jan, López Fernando, Llorente José Luis, Hermsen Mario |
| Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I. Genes, chromosomes & cancer 2021 Aug . Riva Matteo, Martorana Davide, Uliana Vera, Caleffi Edoardo, Boschi Elena, Garavelli Livia, Ponti Giovanni, Sangiorgi Luca, Graziano Claudio, Bigoni Stefania, Rocchetti Luca Maria, Madeo Simona, Soli Fiorenza, Grosso Enrico, Carli Diana, Goldoni Matteo, Pisani Francesco, Percesepe Anton |
| Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants. Clinical neurology and neurosurgery 2021 8 208 106884. Ece Solmaz Asli, Isik Esra, Atik Tahir, Ozkinay Ferda, Onay Husey |
| Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer. Balkan medical journal 2021 Nov 38 (6): 382-391. Kahraman Çetin Nesibe, Erdo?du ?brahim Halil, Bozkurt Emin, Meteo?lu ?brah |
| [Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 38 (11): 1120-1122. Zhang Yuli, Wang Bin, Li Yexian, Li Yanjia, Zhang Guoqia |
| Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors. Sarcoma 2021 10 2021 9386823. Knewitz Daniel K, Anderson Colin J, Presley William T, Horodyski MaryBeth, Scarborough Mark T, Wallace Margaret |
| Multiplatform Genomic Profiling and Immunohistochemistry Identify Prognostic and Predictive Signatures in Malignant Peripheral Nerve Sheath Tumors (MPNSTs). International journal of radiation oncology, biology, physics 2021 Nov 111 (3S): e256-e257. Vasudevan H, Lucas C H, Chen W C, Magill S, Braunstein S E, Reddy A, Perry A, Horvai A E, Jacques L, McCormick F, Pekmezci M, Raleigh |
| A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1. American journal of translational research 2022 8 14 (7): 5139-5145. He Qi, Jiang Jingjing, Yang Jiao, Zeng Junjie, Zhang Huan, Zhang Zhengzho |
| Tumor and Constitutional Sequencing for Neurofibromatosis Type 1. JCO precision oncology 2022 5 6 e2100540. Tong Schuyler, Devine W Patrick, Shieh Joseph |
| [Genetic analysis of two children with sporadic neurofibromatosis type 1 complicated with nephrotic syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1349-1353. Liu Zhufeng, Wang Wenhong, Guo Zhen, Zhao Linsheng, Wu Xia, Liu Tao, Han Tingti |
| Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart. Genes, chromosomes & cancer 2022 11 62 (3): 131-138. Agaram Narasimhan P, Wexler Leonard H, Chi Ping, Antonescu Cristina |
| Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. Acta neuropathologica 2022 10 145 (1): 71-82. Cimino Patrick J, Ketchum Courtney, Turakulov Rust, Singh Omkar, Abdullaev Zied, Giannini Caterina, Pytel Peter, Lopez Giselle Yvette, Colman Howard, Nasrallah MacLean P, Santi Mariarita, Fernandes Igor Lima, Nirschl Jeff, Dahiya Sonika, Neill Stewart, Solomon David, Perez Eilis, Capper David, Mani Haresh, Caccamo Dario, Ball Matthew, Badruddoja Michael, Chkheidze Rati, Camelo-Piragua Sandra, Fullmer Joseph, Alexandrescu Sanda, Yeaney Gabrielle, Eberhart Charles, Martinez-Lage Maria, Chen Jie, Zach Leor, Kleinschmidt-DeMasters B K, Hefti Marco, Lopes Maria-Beatriz, Nuechterlein Nicholas, Horbinski Craig, Rodriguez Fausto J, Quezado Martha, Pratt Drew, Aldape Kenne |
| Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum. Human genetics 2022 1 141 (8): 1371-1383. Zheng Yu, Zhu Guanghui, Liu Yaoxi, Zhao Weihua, Yang Yongjia, Luo Zhenqing, Fu Yuyan, Mei Haibo, Hu Zhengm |
| 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 |
| 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 |
| 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 |
| Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers. Neurology. Genetics 2023 7 8 (4): e200003. Alice F Bewley, Titilope M Akinwe, Tychele N Turner, David H Gutma |
| NF1 Gene Inactivation Acts as Tumor Driver in RET/RAS Negative Medullary Thyroid Carcinomas. European journal of endocrinology 2023 5 . Raffaele Ciampi, Teresa Ramone, Cristina Romei, Roberta Casalini, Antonio Matrone, Alessandro Prete, Carla Gambale, Simone Paolo Minardi, Giovanni Caparezza, Marco Alessandro Pierotti, Liborio Torregrossa, Clara Ugolini, Gabriele Materazzi, Rossella Elis |
| New insights into the molecular basis of spinal neurofibromatosis type 1. European journal of human genetics : EJHG 2023 5 . Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, Roberta Bordoni, Rosina Paterra, Arianna Borghi, Marinella Volontè, Cristina Battaglia, Veronica Saletti, Claudia Cesaretti, Federica Natacci, Mariarosa A B Melone, Marica Eoli, Paola Ri |
| The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European journal of human genetics : EJHG 2023 4 . Zanoni Paolo, Steindl Katharina, Sticht Heinrich, Oneda Beatrice, Joset Pascal, Ivanovski Ivan, Horn Anselm H C, Cabello Elena M, Laube Julia, Zweier Markus, Baumer Alessandra, Rauch Anita, Khan Nad |
| 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 |
| Vitamin D and Bone Metabolism in Adult Patients with Neurofibromatosis Type 1. Metabolites 2023 2 13 (2): . Modica Roberta, Altieri Barbara, D'Aniello Francesco, Benevento Elio, Cannavale Giuseppe, Minotta Roberto, Liccardi Alessia, Colao Annamaria, Faggiano Antongiul |
| 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 |
| 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 |
| A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort. Cancers 2023 1 15 (1): . Paterra Rosina, Bettinaglio Paola, Borghi Arianna, Mangano Eleonora, Tritto Viviana, Cesaretti Claudia, Schettino Carla, Bordoni Roberta, Santoro Claudia, Avignone Sabrina, Moscatelli Marco, Melone Mariarosa Anna Beatrice, Saletti Veronica, Piluso Giulio, Natacci Federica, Riva Paola, Eoli Mari |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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