CNS cancer

Rare TP53 genetic variant associated with glioma risk and outcome
Kathleen M Egan, L Burton Nabors, Jeffrey J Olson, Alvaro N Monteiro, James E Browning, Melissa H Madden, Reid C Thompson

Journal of Medical Genetics Jul 2012, 49 (7) 420-421; DOI: 10.1136/jmedgenet-2012-100941
Bilateral vestibular schwannomas in older patients: NF2 or chance?
D G Evans, S Freeman, C Gokhale, A Wallace, S K Lloyd, P Axon, C L Ward, S Rutherford, A King, S M Huson, R T Ramsden

Journal of Medical Genetics Jun 2015, 52 (6) 422-424; DOI: 10.1136/jmedgenet-2014-102973
Association of 3′-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer’s disease
J-C Lambert, E Luedecking-Zimmer, S Merrot, A Hayes, U Thaker, P Desai, A Houzet, X Hermant, D Cottel, A Pritchard, T Iwatsubo, F Pasquier, B Frigard, P M Conneally, M-C Chartier-Harlin, S T DeKosky, C Lendon, D Mann, M I Kamboh, P Amouyel

Journal of Medical Genetics Jun 2003, 40 (6) 424-430; DOI: 10.1136/jmg.40.6.424
Multiple meningiomas: differential involvement of the NF2 gene in children and adults
D G R Evans, C Watson, A King, A J Wallace, M E Baser

Journal of Medical Genetics Jan 2005, 42 (1) 45-48; DOI: 10.1136/jmg.2004.023705
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
A Moyhuddin, M E Baser, C Watson, S Purcell, R T Ramsden, A Heiberg, A J Wallace, D G R Evans

Journal of Medical Genetics Jun 2003, 40 (6) 459-463; DOI: 10.1136/jmg.40.6.459
Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon
Michael C Frühwald, M Sue O'Dorisio, Laura J Rush, Jill L Reiter, Dominic J Smiraglia, Gail Wenger, Joseph F Costello, Peter S White, Ralf Krahe, Garrett M Brodeur, Christoph Plass

Journal of Medical Genetics Jul 2000, 37 (7) 501-509; DOI: 10.1136/jmg.37.7.501
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
E Petek, D E Jenne, J Smolle, B Binder, W Lasinger, C Windpassinger, K Wagner, P M Kroisel, H Kehrer-Sawatzki

Journal of Medical Genetics Jul 2003, 40 (7) 520-525; DOI: 10.1136/jmg.40.7.520
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
T Tsilchorozidou, F H Menko, F Lalloo, A Kidd, R De Silva, H Thomas, P Smith, A Malcolmson, J Dore, K Madan, A Brown, J G Yovos, M Tsaligopoulos, N Vogiatzis, ME Baser, A J Wallace, D G R Evans

Journal of Medical Genetics Jul 2004, 41 (7) 529-534; DOI: 10.1136/jmg.2003.016774
SMARCB1 mutations are not a common cause of multiple meningiomas
K D Hadfield, M J Smith, D Trump, W G Newman, D G Evans

Journal of Medical Genetics Aug 2010, 47 (8) 567-568; DOI: 10.1136/jmg.2009.075721
Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
C Bovie, S T Holden, A Schroer, E Smith, D Trump, F L Raymond

Journal of Medical Genetics Sep 2003, 40 (9) 682-684; DOI: 10.1136/jmg.40.9.682

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