CNS cancer

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
Adam Hexter, Adrian Jones, Harry Joe, Laura Heap, Miriam J Smith, Andrew J Wallace, Dorothy Halliday, Allyson Parry, Amy Taylor, Lucy Raymond, Adam Shaw, Shazia Afridi, Rupert Obholzer, Patrick Axon, Andrew T King, The English Specialist NF2 Research Group, Jan M Friedman, D Gareth R Evans

Journal of Medical Genetics Oct 2015, 52 (10) 699-705; DOI: 10.1136/jmedgenet-2015-103290
Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures
L Claes, D Audenaert, L Deprez, W Van Paesschen, C Depondt, D Goossens, J Del-Favero, C Van Broeckhoven, P De Jonghe

Journal of Medical Genetics Sep 2004, 41 (9) 710-714; DOI: 10.1136/jmg.2004.019257
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Mohamed H Abdel-Rahman, Robert Pilarski, Colleen M Cebulla, James B Massengill, Benjamin N Christopher, Getachew Boru, Peter Hovland, Frederick H Davidorf

Journal of Medical Genetics Dec 2011, 48 (12) 856-859; DOI: 10.1136/jmedgenet-2011-100156
Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features
F Faravelli, M Upadhyaya, M Osborn, S M Huson, R Hayward, R Winter

Journal of Medical Genetics Dec 1999, 36 (12) 893-896; DOI: 10.1136/jmg.36.12.893
Neurofibromatosis type 2
D Gareth R Evans, M Sainio, Michael E Baser

Journal of Medical Genetics Dec 2000, 37 (12) 897-904; DOI: 10.1136/jmg.37.12.897
Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas
I Christiaans, S B Kenter, H C Brink, T A M van Os, F Baas, P van den Munckhof, A M J Kidd, T J M Hulsebos

Journal of Medical Genetics Feb 2011, 48 (2) 93-97; DOI: 10.1136/jmg.2010.082420
Germline mutation of the tumour suppressor PTEN in Proteus syndrome
J M Smith, E P E Kirk, G Theodosopoulos, G M Marshall, J Walker, M Rogers, M Field, J J Brereton, D J Marsh

Journal of Medical Genetics Dec 2002, 39 (12) 937-940; DOI: 10.1136/jmg.39.12.937
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
B Castle, M E Baser, S M Huson, D N Cooper, M Upadhyaya

Journal of Medical Genetics Oct 2003, 40 (10) e109; DOI: 10.1136/jmg.40.10.e109
Absence of germline p16 ^INK4a alterations in p53 wild type Li-Fraumeni syndrome families
CAROL PORTWINE, JODI LEES, SIGITAS VERSELIS, FREDERICK P LI, DAVID MALKIN

Journal of Medical Genetics Aug 2000, 37 (8) e13; DOI: 10.1136/jmg.37.8.e13
Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations
B Leegte, A H van der Hout, A M Deffenbaugh, M K Bakker, I M Mulder, A ten Berge, E P Leenders, J Wesseling, J de Hullu, N Hoogerbrugge, M J L Ligtenberg, A Ardern-Jones, E Bancroft, A Salmon, J Barwell, R Eeles, J C Oosterwijk

Journal of Medical Genetics Mar 2005, 42 (3) e20; DOI: 10.1136/jmg.2004.027243

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