Neurooncology

Citations 11-20 of 58 total displayed.

Hypothesis
Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms

D G R Evans, E R Maher, M E Baser
J. Med. Genet. 2005; 42: 630-632. [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]  

Medical genetics in practice
A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing

J W Cardinal, L Bergman, N Hayward, A Sweet, J Warner, L Marks, D Learoyd, T Dwight, B Robinson, M Epstein, M Smith, B T Teh, D P Cameron, J B Prins
J. Med. Genet. 2005; 42: 69-74. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

R E Ferner, R A C Hughes, S M Hall, M Upadhyaya, M R Johnson
J. Med. Genet. 2004; 41: 837-841. [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]  

Short reports
A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus

I Bossis, A Voutetakis, L Matyakhina, S Pack, M Abu-Asab, I Bourdeau, K J Griffin, N Courcoutsakis, S Stergiopoulos, D Batista, M Tsokos, C A Stratakis
J. Med. Genet. 2004; 41: 596-600. [Abstract] [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]