Drugs: infectious diseases

Citations 1-10 of 35 total displayed.

Original articles
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

T V Bilousova, L Dansie, M Ngo, J Aye, J R Charles, D W Ethell, I M Ethell
J. Med. Genet. 2009 46: 94 -102; published online before print as 10.1136/jmg.2008.061796 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Letters to JMG
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui
J. Med. Genet. 2007; 44: 341-346. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494CT mutation in the mitochondrial 12S rRNA gene

M Rodríguez-Ballesteros, M Olarte, L A Aguirre, F Galán, R Galán, L A Vallejo, C Navas, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo
J. Med. Genet. 2006; 43: e54. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection

R Dawes, B Hennig, W Irving, S Petrova, S Boxall, V Ward, D Wallace, D C Macallan, M Thursz, A Hill, W Bodmer, P C L Beverley, E Z Tchilian
J. Med. Genet. 2006 43: 678 -684; published online before print as 10.1136/jmg.2005.040485 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
No associations of human pulmonary tuberculosis with Sp110 variants

T Thye, E N Browne, M A Chinbuah, J Gyapong, I Osei, E Owusu-Dabo, S Niemann, S Rüsch-Gerdes, R D Horstmann, C G Meyer
J. Med. Genet. 2006; 43: e32. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?

M-C Tessier, H-Q Qu, R Fréchette, F Bacot, R Grabs, S P Taback, M L Lawson, S E Kirsch, T J Hudson, C Polychronakos
J. Med. Genet. 2006 43: 129 -132; published online before print as 10.1136/jmg.2005.035212 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter
J. Med. Genet. 2005; 42: 350-357. [Extract] [Full text] [PDF] [Request Permissions]  

Hypothesis
Reappraisal of the historical selective pressures for the CCR5-32 mutation

S R Duncan, S Scott, C J Duncan
J. Med. Genet. 2005; 42: 205-208. [Abstract] [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]  

Letters to JMG
Identification of a new locus for isolated familial keratoconus at 2p24

H Hutchings, H Ginisty, M Le Gallo, D Levy, F Stoësser, J F Rouland, J L Arné, M H Lalaux, P Calvas, M P Roth, A Hovnanian, F Malecaze
J. Med. Genet. 2005; 42: 88-94. [Extract] [Full text] [PDF] [Request Permissions]