Immunology (including allergy)

Citations 1-10 of 412 total displayed.

Original articles
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

U Hüffmeier, J Lascorz, T Becker, F Schürmeier-Horst, A Magener, A B Ekici, S Endele, C T Thiel, S Thoma-Uszynski, R Mössner, K Reich, W Kurrat, T F Wienker, H Traupe, A Reis
J. Med. Genet. 2009 46: 736 -744; published online before print as 10.1136/jmg.2008.065029 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation reports
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr, J R Ostergaard, C R Kennedy, A Al-Memar, D M Kullmann, S Schorge, K Temple, M B Davis, M G Hanna
J. Med. Genet. 2009 46: 786 -791; published online before print as 10.1136/jmg.2009.067967 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families

J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, Y Shen
J. Med. Genet. 2009 46: 657 -662; published online before print as 10.1136/jmg.2009.066456 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Apoptosis and cancer: mutations within caspase genes

S Ghavami, M Hashemi, S R Ande, B Yeganeh, W Xiao, M Eshraghi, C J Bus, K Kadkhoda, E Wiechec, A J Halayko, M Los
J. Med. Genet. 2009 46: 497 -510; published online before print as 10.1136/jmg.2009.066944 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies

H Q Qu, S F A Grant, J P Bradfield, C Kim, E Frackelton, H Hakonarson, C Polychronakos
J. Med. Genet. 2009 46: 553 -554; published online before print as 10.1136/jmg.2009.067140 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Letters to JMG
A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

E Pauws, G E Moore, P Stanier
J. Med. Genet. 2009; 46: 555-561. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

M Futter, H Diekmann, E Schoenmakers, O Sadiq, K Chatterjee, D C Rubinsztein
J. Med. Genet. 2009 46: 438 -446; published online before print as 10.1136/jmg.2009.066399 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome

M-A Dragon-Durey, C Blanc, F Marliot, C Loirat, J Blouin, C Sautes-Fridman, W H Fridman, V Frémeaux-Bacchi
J. Med. Genet. 2009 46: 447 -450; published online before print as 10.1136/jmg.2008.064766 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length

M Mangino, J B Richards, N Soranzo, G Zhai, A Aviv, A M Valdes, N J Samani, P Deloukas, T D Spector
J. Med. Genet. 2009 46: 451 -454; published online before print as 10.1136/jmg.2008.064956 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

P Laissue, B Lakhal, B A Benayoun, A Dipietromaria, R Braham, H Elghezal, P Philibert, A Saâd, C Sultan, M Fellous, R A Veitia
J. Med. Genet. 2009 46: 455 -457; published online before print as 10.1136/jmg.2008.065086 [Abstract] [Full text] [PDF] [Request Permissions]