Immunology (including allergy)

Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo
H Caldas, M P Holloway, B M Hall, S J Qualman, R A Altura

Journal of Medical Genetics Feb 2006, 43 (2) 119-128; DOI: 10.1136/jmg.2005.034686
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Eva Klopocki, Silke Lohan, Sandra C Doelken, Sigmar Stricker, Charlotte W Ockeloen, Renata Soares Thiele de Aguiar, Karina Lezirovitz, Regina Celia Mingroni Netto, Aleksander Jamsheer, Hitesh Shah, Ingo Kurth, Rolf Habenicht, Matthew Warman, Koenraad Devriendt, Ulrike Kordaß, Maja Hempel, Anna Rajab, Outi Mäkitie, Mohammed Naveed, Uppala Radhakrishna, Stylianos E Antonarakis, Denise Horn, Stefan Mundlos

Journal of Medical Genetics Feb 2012, 49 (2) 119-125; DOI: 10.1136/jmedgenet-2011-100409
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
Majlinda Lako, Simon Ramsden, R Duncan Campbell, Tom Strachan

Journal of Medical Genetics Feb 1999, 36 (2) 119-124; DOI: 10.1136/jmg.36.2.119
Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage
P Stuart, R P Nair, G R Abecasis, I Nistor, R Hiremagalore, N V Chia, Z S Qin, R A Thompson, S Jenisch, M Weichenthal, J Janiga, H W Lim, E Christophers, J J Voorhees, J T Elder

Journal of Medical Genetics Jan 2006, 43 (1) 12-17; DOI: 10.1136/jmg.2005.032193
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, A David, T Frebourg, J M Rival

Journal of Medical Genetics Feb 2005, 42 (2) 121-128; DOI: 10.1136/jmg.2004.025478
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
J M Wheway, S C Yau, V Nihalani, D Ellis, M Irving, M Splitt, R G Roberts

Journal of Medical Genetics Feb 2003, 40 (2) 127-131; DOI: 10.1136/jmg.40.2.127
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

Journal of Medical Genetics Feb 2006, 43 (2) 129-132; DOI: 10.1136/jmg.2005.035212
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, R J T Rodenburg

Journal of Medical Genetics Mar 2008, 45 (3) 129-133; DOI: 10.1136/jmg.2007.052084
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
Cécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, Anne Moncla, Mathieu Milh, Nadine Girard, Brigitte Chabrol, Nicole Philip, Laurent Villard

Journal of Medical Genetics Feb 2010, 47 (2) 132-136; DOI: 10.1136/jmg.2009.069112
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene
Simon Edvardson, Shingo Kose, Chaim Jalas, Aviva Fattal-Valevski, Ai Watanabe, Yutaka Ogawa, Hiroshi Mamada, Anastasia M Fedick, Shay Ben-Shachar, Nathan R Treff, Avraham Shaag, Sherri Bale, Jutta Gärtner, Naoko Imamoto, Orly Elpeleg

Journal of Medical Genetics Feb 2016, 53 (2) 132-137; DOI: 10.1136/jmedgenet-2015-103232

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