Immunology (including allergy)

Citations 11-20 of 412 total displayed.

Letters to JMG
The effect of the MHC locus on autoantibodies in type 1 diabetes

H-Q Qu, C Polychronakos
J. Med. Genet. 2009 46: 469 -471; published online before print as 10.1136/jmg.2009.066647 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long, A Fryer, W Smith, S Omar, S D McLean, K Clarkson, A Lichty, N J Clegg, M R Delgado, E Levey, E Stashinko, L Potocki, M I VanAllen, J Clayton-Smith, D Donnai, D W Bianchi, P B Juliusson, P R Njølstad, H G Brunner, J C Carey, U Hehr, J Müsebeck, P F Wieacker, A Postra, R C M Hennekam, M-J H van den Boogaard, A van Haeringen, A Paulussen, J Herbergs, C T R M Schrander-Stumpel, A R Janecke, D Chitayat, J Hahn, D M McDonald-McGinn, E H Zackai, W B Dobyns, M Muenke
J. Med. Genet. 2009 46: 389 -398; published online before print as 10.1136/jmg.2008.063818 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]  

Letters to JMG
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

A Ghalamkarpour, W Holnthoner, P Saharinen, L M Boon, J B Mulliken, K Alitalo, M Vikkula
J. Med. Genet. 2009 46: 399 -404; published online before print as 10.1136/jmg.2008.064469 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?

A C Madeo, A Manichaikul, S P Pryor, A J Griffith
J. Med. Genet. 2009 46: 405 -406; published online before print as 10.1136/jmg.2008.063610 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

M Shintani, H Yagi, T Nakayama, T Saji, R Matsuoka
J. Med. Genet. 2009 46: 331 -337; published online before print as 10.1136/jmg.2008.062703 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]  

Original articles
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

A Willaert, F Malfait, S Symoens, K Gevaert, H Kayserili, A Megarbane, G Mortier, J G Leroy, P J Coucke, A De Paepe
J. Med. Genet. 2009 46: 233 -241; published online before print as 10.1136/jmg.2008.062729 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

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 ]  

Mutation reports
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann
J. Med. Genet. 2009; 46: 203-208. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number

A Hogart, K N Leung, N J Wang, D J Wu, J Driscoll, R O Vallero, N C Schanen, J M LaSalle
J. Med. Genet. 2009 46: 86 -93; published online before print as 10.1136/jmg.2008.061580 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

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 ]