Immunology (including allergy)

Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation
J J Cox, S T Holden, S Dee, J I Burbridge, F L Raymond

Journal of Medical Genetics Mar 2003, 40 (3) 169-174; DOI: 10.1136/jmg.40.3.169
Fine mapping of a region on chromosome 21q21.11–q22.3 showing linkage to type 1 diabetes
R Bergholdt, J Nerup, F Pociot

Journal of Medical Genetics Jan 2005, 42 (1) 17-25; DOI: 10.1136/jmg.2004.022004
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
Christopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, Holger Prokisch, Birgit Haberberger, Matthias Gautschi, Annemarie Häberli, Sabina Gallati, André Schaller

Journal of Medical Genetics Mar 2014, 51 (3) 170-175; DOI: 10.1136/jmedgenet-2013-101932
Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
Y He, G Zhou, Y Zhai, X Dong, L Lv, F He, K Yao

Journal of Medical Genetics Feb 2005, 42 (2) 172-176; DOI: 10.1136/jmg.2004.022616
A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families
H Koillinen, P Lahermo, J Rautio, J Hukki, M Peyrard-Janvid, J Kere

Journal of Medical Genetics Feb 2005, 42 (2) 177-184; DOI: 10.1136/jmg.2004.019646
Cleidocranial dysplasia: clinical and molecular genetics
Stefan Mundlos

Journal of Medical Genetics Mar 1999, 36 (3) 177-182; DOI: 10.1136/jmg.36.3.177
Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, M-P Buisine, M Nilbert, A Lindblom, T Frebourg

Journal of Medical Genetics Jan 2004, 41 (1) 18-20; DOI: 10.1136/jmg.2003.012062
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration
Mariska Davids, Megan S Kane, Miao He, Lynne A Wolfe, Xueli Li, Mohd A Raihan, Katherine R Chao, William P Bone, Cornelius F Boerkoel, William A Gahl, Camilo Toro

Journal of Medical Genetics Mar 2016, 53 (3) 180-189; DOI: 10.1136/jmedgenet-2015-103338
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism
Y J Crow, D N Black, M Ali, J Bond, A P Jackson, M Lefson, J Michaud, E Roberts, J B P Stephenson, C G Woods, P Lebon

Journal of Medical Genetics Mar 2003, 40 (3) 183-187; DOI: 10.1136/jmg.40.3.183
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
Hanan E Shamseldin, Mohamed Elfaki, Fowzan S Alkuraya

Journal of Medical Genetics Mar 2012, 49 (3) 184-186; DOI: 10.1136/jmedgenet-2011-100585

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