Human Genome Epidemiology Literature Finder
Records 1 - 29 (of 29 Records) |
Query Trace: Neurofibromatosis 1 and NF2[original query] |
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Molecular alterations in the neurofibromatosis type 2 gene and its protein rarely occurring in meningothelial meningiomas. Journal of neurosurgery 2001 1 94 (1): 111-7. Evans J J, Jeun S S, Lee J H, Harwalkar J A, Shoshan Y, Cowell J K, Golubic |
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 |
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma? Clinical genetics 2007 Apr 71 (4): 354-8. Evans D G R, Ramsden R T, Gokhale C, Bowers N, Huson S M, Wallace |
[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 |
A role for the p53 pathway in the pathology of meningiomas with NF2 loss. Journal of neuro-oncology 2009 Feb 91 (3): 265-70. Chang ZeNan, Guo Chin-Lin, Ahronowitz Iris, Stemmer-Rachamimov Anat O, MacCollin Mia, Nunes Fabio |
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 |
Mutational analysis of tumour suppressor gene NF2 in common solid cancers and acute leukaemias. Pathology 2012 Jan 44 (1): 29-32. Yoo Nam Jin, Park Sang Wook, Lee Sug Hyu |
Malignant peripheral nerve sheath tumours in inherited disease. Clinical sarcoma research 2012 Oct 2 (1): 1. Evans DG, Huson SM, Birch JM |
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 |
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. Neuro-Chirurgie 2015 Jun . Pasmant E, Louvrier C, Luscan A, Cohen J, Laurendeau I, Vidaud M, Vidaud D, Goutagny S, Kalamarides M, Parfait |
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 |
Molecular alterations of the NF2 gene in hepatocellular carcinoma and intrahepatic cholangiocarcinoma. Oncology reports 2017 11 38 (6): 3650-3658. Zhang Ning, Zhao Zhang, Long Jiang, Li Hai, Zhang Bei, Chen Guangyong, Li Xiaojin, Lv Tingxia, Zhang Wei, Ou Xiaojuan, Xu Anjian, Huang Ji |
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 |
[Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 480-483. Peng Chunyan, Ma Shi, Tang Xianglan, Yang Jiy |
Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas. Anticancer research 2018 3 38 (4): 2149-2154. DE Carvalho Raimundo Miranda, DE Castro Sant' Anna Carla, Pinto Giovanny Rebouças, Paschoal Eric Homero Albuquerque, Tuji Fabricio Mesquita, DO Nascimento Borges Barbara, Soares Paulo Cardoso, Júnior Alberto Gomes Ferreira, Rey Juan Antonio, Chaves Luiz Cláudio Lopes, Burbano Rommel Rodrigu |
Progression of hearing loss in neurofibromatosis type 2 according to genetic severity. The Laryngoscope 2018 11 129 (4): 974-980. Emmanouil Beatrice, Houston Rory, May Anne, Ramsden James D, Hanemann C Oliver, Halliday Dorothy, Parry Allyson, Mackeith Samu |
Management of NF2-associated vestibular schwannomas in children and young adults: influence of surgery and clinical factors on tumor volume and growth rate. Journal of neurosurgery. Pediatrics 2019 8 1-9. Gugel Isabel, Grimm Florian, Teuber Christian, Kluwe Lan, Mautner Victor-Felix, Tatagiba Marcos, Schuhmann Martin Ulri |
Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma. International journal of ophthalmology 2019 4 12 (4): 571-576. Supartoto Agus, Mahayana Indra Tri, Heriyanto Didik Setyo, Sasongko Muhammad Bayu, Respatika Henricus Datu, Sakti Dhimas Hari, Nurlaila Prima Sugesty, Kusnanto Hari, Pawiroranu Suhardjo, Haryana Sofia Mubari |
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas. Scientific reports 2020 7 10 (1): 12563. Pemov Alexander, Dewan Ramita, Hansen Nancy F, Chandrasekharappa Settara C, Ray-Chaudhury Abhik, Jones Kristine, Luo Wen, Heiss John D, Mullikin James C, Chittiboina Prashant, Stewart Douglas R, Asthagiri Ashok |
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 |
[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, |
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use. Neurology 2021 7 97 (7 Suppl 1): S91-S98. Bettegowda Chetan, Upadhayaya Meena, Evans D Gareth, Kim AeRang, Mathios Dimitrios, Hanemann Clemens O, |
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. Human mutation 2021 7 42 (10): 1187-1207. Perez-Becerril Cristina, Evans D Gareth, Smith Miriam |
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, |
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
![]() Brain : a journal of neurology 2022 12 . Sadler Katherine V, Bowes John, Rowlands Charlie F, Perez-Becerril Cristina, van der Meer C Mwee, King Andrew T, Rutherford Scott A, Pathmanaban Omar N, Hammerbeck-Ward Charlotte, Lloyd Simon K W, Freeman Simon R, Williams Ricky, Hannan Cathal John, Lewis Daniel, Eyre Steve, Evans D Gareth, Smith Miriam |
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- Page last updated:Jun 02, 2023
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