Immunology (including allergy)

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
B I Dimitrov, T de Ravel, J Van Driessche, C de Die-Smulders, A Toutain, J R Vermeesch, J P Fryns, K Devriendt, P Debeer

Journal of Medical Genetics Feb 2010, 47 (2) 103-111; DOI: 10.1136/jmg.2008.065888
Association of the CD14 gene –159C polymorphism with progression of IgA nephropathy
H-J Yoon, J H Shin, S H Yang, D-W Chae, H Kim, D-S Lee, H L Kim, S Kim, J S Lee, Y S Kim

Journal of Medical Genetics Feb 2003, 40 (2) 104-108; DOI: 10.1136/jmg.40.2.104
A locus for isolated cataract on human Xp
P J Francis, V Berry, A J Hardcastle, E R Maher, A T Moore, S S Bhattacharya

Journal of Medical Genetics Feb 2002, 39 (2) 105-109; DOI: 10.1136/jmg.39.2.105
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
L Kluwe, V Mautner, B Heinrich, R Dezube, L B Jacoby, R E Friedrich, M MacCollin

Journal of Medical Genetics Feb 2003, 40 (2) 109-114; DOI: 10.1136/jmg.40.2.109
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I Longo, S G M Frints, J-P Fryns, I Meloni, C Pescucci, F Ariani, M Borghgraef, M Raynaud, P Marynen, C Schwartz, A Renieri, G Froyen

Journal of Medical Genetics Jan 2003, 40 (1) 11-17; DOI: 10.1136/jmg.40.1.11
Breakpoints around the HOXD cluster result in various limb malformations
B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, M Cohen, S Mundlos, Z Tümer, K Kjaer, U Friedrich, H-H Ropers, N Tommerup, H Neitzel, V M Kalscheuer

Journal of Medical Genetics Feb 2006, 43 (2) 111-118; DOI: 10.1136/jmg.2005.033555
WGSA: an annotation pipeline for human genome sequencing studies
Xiaoming Liu, Simon White, Bo Peng, Andrew D Johnson, Jennifer A Brody, Alexander H Li, Zhuoyi Huang, Andrew Carroll, Peng Wei, Richard Gibbs, Robert J Klein, Eric Boerwinkle

Journal of Medical Genetics Feb 2016, 53 (2) 111-112; DOI: 10.1136/jmedgenet-2015-103423
Isolated cytochrome c oxidase deficiency as a cause of MELAS
W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, R E Bittner

Journal of Medical Genetics Feb 2008, 45 (2) 117-121; DOI: 10.1136/jmg.2007.052076
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, Benno Röthlisberger, Peter Weber, Andreas R Huber, Tsutomu Nishizawa, Alexandre N Datta, Peter Miny, Toshiyuki Yamamoto

Journal of Medical Genetics Feb 2011, 48 (2) 117-122; DOI: 10.1136/jmg.2010.084582
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
Simon Edvardson, Shimrit Oz, Fida Aziz Abulhijaa, Flora Barghouthi Taher, Avraham Shaag, Shamir Zenvirt, Nathan Dascal, Orly Elpeleg

Journal of Medical Genetics Feb 2013, 50 (2) 118-123; DOI: 10.1136/jmedgenet-2012-101223

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