Endocrine cancer

Citations 1-10 of 46 total displayed.

Short reports
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

F Chibon, C Primois, J-M Bressieux, D Lacombe, C Lok, L Mauriac, A Taieb, M Longy
J. Med. Genet. 2008 45: 657 -665; published online before print as 10.1136/jmg.2008.058131 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

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
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]  

Letters to JMG
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Wen-Hann Tan, Hagit N Baris, Patricia E Burrows, Caroline D Robson, Ahmad I Alomari, John B Mulliken, Steven J Fishman, Mira B Irons
J. Med. Genet. 2007 44: 594 -602; published online before print as 10.1136/jmg.2007.048934 [Abstract] [Full text] [PDF] [Request Permissions]  

Medical genetics in practice
Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder

G K Suthers, J Armstrong, J McCormack, D Trott
J. Med. Genet. 2006 43: 665 -670; published online before print as 10.1136/jmg.2005.039172 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation

B C Figueiredo, R Sandrini, G P Zambetti, R M Pereira, C Cheng, W Liu, L Lacerda, M A Pianovski, E Michalkiewicz, J Jenkins, C Rodriguez-Galindo, M J Mastellaro, S Vianna, F Watanabe, F Sandrini, S B I Arram, P Boffetta, R C Ribeiro
J. Med. Genet. 2006 43: 91 -96; published online before print as 10.1136/jmg.2004.030551 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Arteriovenous malformations in Cowden syndrome

M M Turnbull, V Humeniuk, B Stein, G K Suthers
J. Med. Genet. 2005; 42: e50. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

M G Butler, M J Dasouki, X-P Zhou, Z Talebizadeh, M Brown, T N Takahashi, J H Miles, C H Wang, R Stratton, R Pilarski, C Eng
J. Med. Genet. 2005; 42: 318-321. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at –1249

R M Fernandez, G Boru, A Peciña, K Jones, M López-Alonso, G Antiñolo, S Borrego, C Eng
J. Med. Genet. 2005; 42: 322-327. [Extract] [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]