Neurooncology

Citations 1-10 of 58 total displayed.

Original articles
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

E Pasmant, A Sabbagh, N Hanna, J Masliah-Planchon, E Jolly, P Goussard, P Ballerini, F Cartault, S Barbarot, J Landman-Parker, N Soufir, B Parfait, M Vidaud, P Wolkenstein, D Vidaud, R N F France
J. Med. Genet. 2009 46: 425 -430; published online before print as 10.1136/jmg.2008.065243 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

G Spurlock, E Bennett, N Chuzhanova, N Thomas, H-Ping Jim, L Side, S Davies, E Haan, B Kerr, S M Huson, M Upadhyaya
J. Med. Genet. 2009 46: 431 -437; published online before print as 10.1136/jmg.2008.065474 [Abstract] [Full text] [PDF] [Request Permissions]  

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]  

Original articles
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, V-F Mautner
J. Med. Genet. 2009 46: 81 -85; published online before print as 10.1136/jmg.2008.061051 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation report
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma

A Russell-Swetek, A N West, J E Mintern, J Jenkins, C Rodriguez-Galindo, R Ribeiro, G P Zambetti
J. Med. Genet. 2008; 45: 603-606. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

D Gareth R Evans, R T Ramsden, A Shenton, C Gokhale, N L Bowers, S M Huson, G Pichert, A Wallace
J. Med. Genet. 2007 44: 424 -428; published online before print as 10.1136/jmg.2006.047753 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1

J A McCaughan, S M Holloway, R Davidson, W W K Lam
J. Med. Genet. 2007 44: 463 -466; published online before print as 10.1136/jmg.2006.048140 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1

M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, V-F Mautner
J. Med. Genet. 2006 43: 810 -813; published online before print as 10.1136/jmg.2006.041095 [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]  

Electronic letters
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

K A Mensink, R P Ketterling, H C Flynn, R A Knudson, N M Lindor, B A Heese, R J Spinner, D Babovic-Vuksanovic
J. Med. Genet. 2006; 43: e08. [Abstract] [Full text] [PDF] [Request Permissions]