Drugs: infectious diseases

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
Edward Blair, Simon J Price, Catherine J Baty, Ingegerd Östman-Smith, Hugh Watkins

Journal of Medical Genetics Jun 2001, 38 (6) 385-388; DOI: 10.1136/jmg.38.6.385
CDKN2BAS is associated with periodontitis in different European populations and is activated by bacterial infection
Arne S Schaefer, Gesa M Richter, Henrik Dommisch, Markus Reinartz, Michael Nothnagel, Barbara Noack, Marja L Laine, Mathias Folwaczny, Birte Groessner-Schreiber, Bruno G Loos, Søren Jepsen, Stefan Schreiber

Journal of Medical Genetics Jan 2011, 48 (1) 38-47; DOI: 10.1136/jmg.2010.078998
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
Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells
Xiangning Meng, Xiuying Qi, Huanhuan Guo, Mengdi Cai, Chunxiang Li, Jing Zhu, Feng Chen, Huan Guo, Jie Li, Yuzhen Zhao, Peng Liu, Xueyuan Jia, Jingcui Yu, Chunyu Zhang, Wenjing Sun, Yang Yu, Yan Jin, Jing Bai, Mingrong Wang, Jesusa Rosales, Ki-Young Lee, Songbin Fu

Journal of Medical Genetics Feb 2015, 52 (2) 135-144; DOI: 10.1136/jmedgenet-2014-102703
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman

Journal of Medical Genetics Feb 2005, 42 (2) 147-151; DOI: 10.1136/jmg.2004.022673
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
William Reardon, Anne Smith, John W Honour, Peter Hindmarsh, Debipriya Das, Gill Rumsby, Isabelle Nelson, Sue Malcolm, Lesley Adès, David Sillence, Dhavendra Kumar, Celia DeLozier-Blanchet, Shane McKee, Thaddeus Kelly, Wallace L McKeehan, Michael Baraitser, Robin M Winter

Journal of Medical Genetics Jan 2000, 37 (1) 26-32; DOI: 10.1136/jmg.37.1.26
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height
Teri-Louise North, Yoav Ben-Shlomo, Cyrus Cooper, Ian J Deary, John Gallacher, Mika Kivimaki, Meena Kumari, Richard M Martin, Alison Pattie, Avan Aihie Sayer, John M Starr, Andrew Wong, Diana Kuh, Santiago Rodriguez, Ian N M Day

Journal of Medical Genetics Apr 2016, 53 (4) 280-288; DOI: 10.1136/jmedgenet-2015-103342
CRISPR-Cas9: a new and promising player in gene therapy
Lu Xiao-Jie, Xue Hui-Ying, Ke Zun-Ping, Chen Jin-Lian, Ji Li-Juan

Journal of Medical Genetics May 2015, 52 (5) 289-296; DOI: 10.1136/jmedgenet-2014-102968
Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility
Susan Searle, Jenefer M Blackwell

Journal of Medical Genetics Apr 1999, 36 (4) 295-299; DOI: 10.1136/jmg.36.4.295
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui

Journal of Medical Genetics May 2007, 44 (5) 341-346; DOI: 10.1136/jmg.2006.045880

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