Paediatric oncology

Citations 1-10 of 94 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]  

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 ]  

Letters to JMG
Molecular characterisation of a common SDHB deletion in paraganglioma patients

A Cascón, Í Landa, E López-Jiménez, A Díez-Hernández, M Buchta, C Montero-Conde, S Leskelä, L J Leandro-García, R Letón, C Rodríguez-Antona, C Eng, H P H Neumann, M Robledo
J. Med. Genet. 2008 45: 233 -238; published online before print as 10.1136/jmg.2007.054965 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

Veronica van Heyningen, Jan M N Hoovers, Jan de Kraker, John A Crolla
J. Med. Genet. 2007 44: 787 -790; published online before print as 10.1136/jmg.2007.051318 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

K L Lachlan, A M Lucassen, D Bunyan, I K Temple
J. Med. Genet. 2007 44: 579 -585; published online before print as 10.1136/jmg.2007.049981 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

Richard H Scott, Tessa Homfray, Nicola L Huxter, Sally G Mitton, Ruth Nash, Mike N Potter, Donna Lancaster, Nazneen Rahman
J. Med. Genet. 2007; 44: e83. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation

Constanze Uschkereit, Noelia Perez, Carmen de Torres, Maike Küff, Jaume Mora, Brigitte Royer-Pokora
J. Med. Genet. 2007; 44: 393-396. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Variants in mannose-binding lectin and tumour necrosis factor affect survival in cystic fibrosis

Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, Garry R Cutting
J. Med. Genet. 2007 44: 209 -214; published online before print as 10.1136/jmg.2006.046318 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

Cheng-Lung Ku, Capucine Picard, Melinda Erdös, Axel Jeurissen, Jacinta Bustamante, Anne Puel, Horst von Bernuth, Orchidée Filipe-Santos, Huey-Hsuan Chang, Tatiana Lawrence, Marc Raes, László Maródi, Xavier Bossuyt, Jean-Laurent Casanova
J. Med. Genet. 2007 44: 16 -23; published online before print as 10.1136/jmg.2006.044446 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

S Russo, P Finelli, M P Recalcati, S Ferraiuolo, F Cogliati, B Dalla Bernardina, M G Tibiletti, M Agosti, M Sala, M T Bonati, L Larizza
J. Med. Genet. 2006; 43: e39. [Abstract] [Full text] [PDF] [Request Permissions]