CNS cancer

Citations 1-10 of 28 total displayed.

Mutation reports
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

C P Kratz, S Holter, J Etzler, M Lauten, A Pollett, C M Niemeyer, S Gallinger, K Wimmer
J. Med. Genet. 2009 46: 418 -420; published online before print as 10.1136/jmg.2008.064212 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma

M E Baser, T Y Poussaint
J. Med. Genet. 2006 43: 285 -287; published online before print as 10.1136/jmg.2005.035162 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
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
J. Med. Genet. 2005; 42: e20. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, The Breast Cancer Susceptibility Collaboration (UK), K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman for the Familial Wilms Tumour Collaboration
J. Med. Genet. 2005; 42: 147-151. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
A PDGFRA promoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas

C De Bustos, A Smits, B Strömberg, V P Collins, M Nistér, G Afink
J. Med. Genet. 2005; 42: 31-37. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2005; 42: 45-48. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2004; 41: 710-714. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2004; 41: 529-534. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, J Whittaker
J. Med. Genet. 2004; 41: e48. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

M Venturin, P Guarnieri, F Natacci, M Stabile, R Tenconi, M Clementi, C Hernandez, P Thompson, M Upadhyaya, L Larizza, P Riva
J. Med. Genet. 2004; 41: 35-41. [Extract] [Full text] [PDF] [Request Permissions]