Epidemiology

Citations 11-20 of 462 total displayed.

Original articles
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

S M Ware, N El-Hassan, S G Kahler, Q Zhang, Y-W, E Miller, B Wong, R L Spicer, W J Craigen, B A Kozel, D K Grange, L-J Wong
J. Med. Genet. 2009 46: 308 -314; published online before print as 10.1136/jmg.2008.063149 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
Evaluation of a surveillance programme for women with a family history of breast cancer

M M Reis, M Tavakoli, J Dewar, D Goudie, A Cook, L McLeish, D Young, J Kenyon, M Steel
J. Med. Genet. 2009 46: 319 -323; published online before print as 10.1136/jmg.2008.064311 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Risk reducing mastectomy: outcomes in 10 European centres

D G R Evans, A D Baildam, E Anderson, A Brain, A Shenton, H F A Vasen, D Eccles, A Lucassen, G Pichert, H Hamed, P Moller, L Maehle, P J Morrison, D Stoppat-Lyonnet, H Gregory, E Smyth, D Niederacher, C Nestle-Krämling, J Campbell, P Hopwood, F Lalloo, A Howell
J. Med. Genet. 2009 46: 254 -258; published online before print as 10.1136/jmg.2008.062232 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

E Berry-Kravis, D Hessl, S Coffey, C Hervey, A Schneider, J Yuhas, J Hutchison, M Snape, M Tranfaglia, D V Nguyen, R Hagerman
J. Med. Genet. 2009 46: 266 -271; published online before print as 10.1136/jmg.2008.063701 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Inherited mitochondrial optic neuropathies

P Yu-Wai-Man, P G Griffiths, G Hudson, P F Chinnery
J. Med. Genet. 2009 46: 145 -158; published online before print as 10.1136/jmg.2007.054270 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms

S Bruce, F Nyberg, E Melén, A James, V Pulkkinen, C Orsmark-Pietras, A Bergström, B Dahlén, M Wickman, E von Mutius, G Doekes, R Lauener, J Riedler, W Eder, M van Hage, G Pershagen, A Scheynius, J Kere
J. Med. Genet. 2009 46: 159 -167; published online before print as 10.1136/jmg.2007.055137 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, W Carpentier, B Keren, B Abert, A Gautier, S Baulac, A Arzimanoglou, C Cazeneuve, R Nabbout, E LeGuern
J. Med. Genet. 2009 46: 183 -191; published online before print as 10.1136/jmg.2008.062323 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

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
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy

N Fuhrmann, M V Alavi, P Bitoun, S Woernle, G Auburger, B Leo-Kottler, P Yu-Wai-Man, P Chinnery, B Wissinger
J. Med. Genet. 2009; 46: 136-144. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women

K Y-K Chan, W Liu, J-R Long, S-P Yip, S-Y Chan, X-O Shu, D T-T Chua, A N-Y Cheung, J C-Y Ching, H Cai, G K-H Au, M Chan, W Foo, H Y-S Ngan, Y-T Gao, E S-W Ngan, M-M Garcia-Barceló, Wei Zheng, U-S Khoo
J. Med. Genet. 2009 46: 32 -39; published online before print as 10.1136/jmg.2007.057174 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]