Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease and NF2[original query] |
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| Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. American journal of human genetics 2004 Aug 75 (2): 231-9. Baser Michael E, Kuramoto Lisa, Joe Harry, Friedman J M, Wallace Andrew J, Gillespie James E, Ramsden Richard T, Evans D Gareth |
| Molecular genotyping of medullary thyroid carcinoma can predict tumor recurrence. The American journal of surgical pathology 2004 1 28 (1): 101-6. Sheikh Hina A, Tometsko Michael, Niehouse Laura, Aldeeb Dalal, Swalsky Patricia, Finkelstein Sydney, Barnes E Leon, Hunt Jennifer |
| [Phenotype-genotype study in 154 French NF2 mutation carriers]. Revue neurologique 2007 Nov 163 (11): 1031-8. Demange L, De Moncuit C, Thomas G, Olschwang |
| Further genotype--phenotype correlations in neurofibromatosis 2. Clinical genetics 2010 Feb 77 (2): 163-70. Selvanathan S K, Shenton A, Ferner R, Wallace A J, Huson S M, Ramsden R T, Evans D |
| SMARCB1 mutations are not a common cause of multiple meningiomas. Journal of medical genetics 2010 Aug 47 (8): 567-8. Hadfield K D, Smith M J, Trump D, Newman W G, Evans D |
| SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC neurology 2011 1 11 9. Rousseau Guillaume, Noguchi Tetsuro, Bourdon Violaine, Sobol Hagay, Olschwang Sylvia |
| Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology 2015 Jan 84 (2): 141-7. Smith Miriam J, Isidor Bertand, Beetz Christian, Williams Simon G, Bhaskar Sanjeev S, Richer Wilfrid, O'Sullivan James, Anderson Beverly, Daly Sarah B, Urquhart Jill E, Fryer Alan, Rustad Cecilie F, Mills Samantha J, Samii Amir, du Plessis Daniel, Halliday Dorothy, Barbarot Sebastien, Bourdeaut Franck, Newman William G, Evans D Gare |
| Targeted next-generation sequencing of cancer genes in advanced stage malignant pleural mesothelioma: a retrospective study. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2015 Mar 10 (3): 492-9. Lo Iacono Marco, Monica Valentina, Righi Luisella, Grosso Federica, Libener Roberta, Vatrano Simona, Bironzo Paolo, Novello Silvia, Musmeci Loredana, Volante Marco, Papotti Mauro, Scagliotti Giorgio |
| Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma. The Journal of clinical endocrinology and metabolism 2015 Mar 100 (3): E493-502. Juhlin C Christofer, Goh Gerald, Healy James M, Fonseca Annabelle L, Scholl Ute I, Stenman Adam, Kunstman John W, Brown Taylor C, Overton John D, Mane Shrikant M, Nelson-Williams Carol, Bäckdahl Martin, Suttorp Anna-Carinna, Haase Matthias, Choi Murim, Schlessinger Joseph, Rimm David L, Höög Anders, Prasad Manju L, Korah Reju, Larsson Catharina, Lifton Richard P, Carling Tobi |
| Whole-exome sequencing reveals frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1 in malignant pleural mesothelioma. Cancer research 2015 Jan 75 (2): 264-9. Guo Guangwu, Chmielecki Juliann, Goparaju Chandra, Heguy Adriana, Dolgalev Igor, Carbone Michele, Seepo Sara, Meyerson Matthew, Pass Harvey |
| Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology 2016 Nov . Smith Miriam J, Bowers Naomi L, Bulman Michael, Gokhale Carolyn, Wallace Andrew J, King Andrew T, Lloyd Simon K L, Rutherford Scott A, Hammerbeck-Ward Charlotte L, Freeman Simon R, Evans D Gare |
| Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults. JAMA neurology 2017 8 74 (9): 1123-1129. Pathmanaban Omar N, Sadler Katherine V, Kamaly-Asl Ian D, King Andrew T, Rutherford Scott A, Hammerbeck-Ward Charlotte, McCabe Martin G, Kilday John-Paul, Beetz Christian, Poplawski Nicola K, Evans D Gareth, Smith Miriam |
| Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults. Frontiers in neurology 2018 9 9 733. Gugel Isabel, Mautner Victor-Felix, Kluwe Lan, Tatagiba Marcos Soares, Schuhmann Martin Ulri |
| Genomic Features of Metastatic Testicular Sex Cord Stromal Tumors. European urology focus 2019 6 5 (5): 748-755. Necchi Andrea, Bratslavsky Gennady, Shapiro Oleg, Elvin Julia A, Vergilio Jo-Anne, Killian Jonathan K, Ngo Nhu, Ramkissoon Shakti, Severson Eric, Hemmerich Amanda C, Ali Siraj M, Chung Jon H, Reddy Prasanth, Miller Vincent A, Schrock Alexa B, Gay Laurie M, Ross Jeffrey S, Jacob Joseph |
| Genomic analysis of low-grade serous ovarian carcinoma to identify key drivers and therapeutic vulnerabilities. The Journal of pathology 2020 9 253 (1): 41-54. Cheasley Dane, Nigam Abhimanyu, Zethoven Magnus, Hunter Sally, Etemadmoghadam Dariush, Semple Timothy, Allan Prue, Carey Mark S, Fernandez Marta L, Dawson Amy, Köbel Martin, Huntsman David G, Le Page Cécile, Mes-Masson Anne-Marie, Provencher Diane, Hacker Neville, Gao Yunkai, Bowtell David, deFazio Anna, Gorringe Kylie L, Campbell Ian |
| Genetic basis of SMARCB1 protein loss in 22 sinonasal carcinomas. Human pathology 2020 8 104 105-116. Dogan Snjezana, Cotzia Paolo, Ptashkin Ryan N, Nanjangud Gouri J, Xu Bin, Momeni Boroujeni Amir, Cohen Marc A, Pfister David G, Prasad Manju L, Antonescu Cristina R, Chen Yingbei, Gounder Mrinal |
| Association of intraneural perineurioma with neurofibromatosis type 2. Acta neurochirurgica 2020 (8): 1891-1897. Pendleton Courtney, Spinner Robert J, Dyck P James B, Mauermann Michelle L, Ladak Adil, Restrepo Carlos E, Baheti Saurabh, Klein Christopher |
| Mutational Profile of Malignant Pleural Mesothelioma (MPM) in the Phase II RAMES Study. Cancers 2020 10 12 (10): . Pagano Maria, Ceresoli Luca Giovanni, Zucali Paolo Andrea, Pasello Giulia, Garassino Marina, Grosso Federica, Tiseo Marcello, Soto Parra Hector, Zanelli Francesca, Cappuzzo Federico, Grossi Francesco, De Marinis Filippo, Pedrazzoli Paolo, Gnoni Roberta, Bonelli Candida, Torricelli Federica, Ciarrocchi Alessia, Normanno Nicola, Pinto Carmi |
| [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 |
| Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component. Journal of medical genetics 2021 8 59 (7): 678-686. Catasús Núria, Garcia Belen, Galván-Femenía Iván, Plana Adrià, Negro Alejandro, Rosas Inma, Ros Andrea, Amilibia Emilio, Becerra Juan Luis, Hostalot Cristina, Rocaribas Francesc, Bielsa Isabel, Lazaro Garcia Conxi, de Cid Rafael, Serra Eduard, Blanco Ignacio, Castellanos Elisabeth, |
| Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss and CDKN2A/B Homozygous Deletion on Recurrence-Free Survival. Cancers 2021 3 13 (4): . Barresi Valeria, Simbolo Michele, Fioravanzo Adele, Piredda Maria Liliana, Caffo Maria, Ghimenton Claudio, Pinna Giampietro, Longhi Michele, Nicolato Antonio, Scarpa Al |
| Phase 1 cohort expansion study of LY3023414, a dual PI3K/mTOR inhibitor, in patients with advanced mesothelioma. Investigational new drugs 2021 Mar . Zauderer Marjorie G, Alley Evan W, Bendell Johanna, Capelletto Enrica, Bauer Todd M, Callies Sophie, Szpurka Anna M, Kang Suhyun, Willard Melinda D, Wacheck Volker, Varghese Anna |
| Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing. Scientific reports 2022 6 12 (1): 9543. Teranishi Yu, Miyawaki Satoru, Nakatomi Hirofumi, Ohara Kenta, Hongo Hiroki, Dofuku Shogo, Okano Atsushi, Takayanagi Shunsaku, Ota Takahiro, Yoshimura Jun, Qu Wei, Mitsui Jun, Morishita Shinichi, Tsuji Shoji, Saito Nobuhi |
| Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas. Journal of the European Academy of Dermatology and Venereology : JEADV 2022 5 36 (9): 1632-1640. Plana-Pla A, García B, Munera-Campos M, Catasus N, Serra Arenas E, Blanco I, Castellanos Perez E, Bielsa I, |
| Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population. Human mutation 2022 4 43 (7): 919-927. Deng Fanxuan, Evans D Gareth, Smith Miriam |
| Phase II Trial of Cabozantinib Plus Nivolumab in Patients With Non-Clear-Cell Renal Cell Carcinoma and Genomic Correlates. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 3 40 (21): 2333-2341. Lee Chung-Han, Voss Martin H, Carlo Maria Isabel, Chen Ying-Bei, Zucker Mark, Knezevic Andrea, Lefkowitz Robert A, Shapnik Natalie, Dadoun Chloe, Reznik Ed, Shah Neil J, Owens Colette Ngozi, McHugh Deaglan Joseph, Aggen David Henry, Laccetti Andrew Leonard, Kotecha Ritesh, Feldman Darren R, Motzer Robert |
| Missense variant interaction scanning reveals a critical role of the FERM domain for tumor suppressor protein NF2 conformation and function. Life science alliance 2023 6 6 (8): . Christina S Moesslacher, Elisabeth Auernig, Jonathan Woodsmith, Andreas Feichtner, Evelyne Jany-Luig, Stefanie Jehle, Josephine M Worseck, Christian L Heine, Eduard Stefan, Ulrich Stel |
| Radiogenomics in NF2-Associated Schwannomatosis (Neurofibromatosis Type II): Exploratory Data Analysis. Studies in health technology and informatics 2023 6 305 588-591. Gleb Danilov, Elizaveta Makashova, Mikhail Galkin, Kristina Karandashe |
| Comprehensive molecular characterization of collecting duct carcinoma for therapeutic vulnerability. EMBO molecular medicine 2024 8 . Peiyong Guan, Jianfeng Chen, Chengqiang Mo, Tomoya Fukawa, Chao Zhang, Xiuyu Cai, Mei Li, Jing Han Hong, Jason Yongsheng Chan, Cedric Chuan Young Ng, Jing Yi Lee, Suet Far Wong, Wei Liu, Xian Zeng, Peili Wang, Rong Xiao, Vikneswari Rajasegaran, Swe Swe Myint, Abner Ming Sun Lim, Joe Poh Sheng Yeong, Puay Hoon Tan, Choon Kiat Ong, Tao Xu, Yiqing Du, Fan Bai, Xin Yao, Bin Tean Teh, Jing T |
| Surgical Outcomes and Genomic Insights of Nonclear Cell Renal Cell Carcinoma with Synchronous and Metachronous Nodal Disease. Urology practice 2024 6 101097UPJ0000000000000623. Lennert Eismann, Mark Zucker, Mark T Dawidek, Stephen W Reese, Lina Posada Calderon, Andreas Aulitzky, Christian G Stief, Jonathan A Coleman, Ritesh R Kotecha, Maria Carlo, Yingbei Chen, Eduard Reznik, Paul Russo, A Ari Haki |
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