CNS cancer

Citations 11-20 of 28 total displayed.

Electronic letters
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

B Castle, M E Baser, S M Huson, D N Cooper, M Upadhyaya
J. Med. Genet. 2003; 40: e109. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2003; 40: 682-684. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2003; 40: 520-525. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2003; 40: 424-430. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2003; 40: 459-463. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients

A Cebrián, S Ruiz-Llorente, A Cascón, M Pollán, J J Díez, A Picó, D Tellería, J Benítez, M Robledo
J. Med. Genet. 2003; 40: e72. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?

A-M Martin, P A Kanetsky, B Amirimani, T A Colligon, G Athanasiadis, H A Shih, M R Gerrero, K Calzone, T R Rebbeck, B L Weber
J. Med. Genet. 2003; 40: e34. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Cancer risk in 348 French MSH2 or MLH1 gene carriers

Y Parc, C Boisson, G Thomas, S Olschwang
J. Med. Genet. 2003; 40: 208-213. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only Tables ]  

Letters to JMG
Independent NF1 mutations in two large families with spinal neurofibromatosis

L Messiaen, V Riccardi, J Peltonen, O Maertens, T Callens, S L Karvonen, E-L Leisti, J Koivunen, I Vandenbroucke, K Stephens, M Pöyhönen
J. Med. Genet. 2003; 40: 122-126. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2002; 39: 937-940. [Extract] [Full text] [PDF] [Request Permissions]