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Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C. Quemener S, et al. Among authors: mcdevitt t. Hum Mutat. 2010 Apr;31(4):421-8. doi: 10.1002/humu.21196. Hum Mutat. 2010. PMID: 20052766 Free PMC article.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Férec C, Casals T, Chuzhanova N, Macek M Jr, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM. Férec C, et al. Among authors: mcdevitt t. Eur J Hum Genet. 2006 May;14(5):567-76. doi: 10.1038/sj.ejhg.5201590. Eur J Hum Genet. 2006. PMID: 16493442
When good CF tests go bad.
McDevitt T, Barton D. McDevitt T, et al. Eur J Hum Genet. 2009 Apr;17(4):403-5. doi: 10.1038/ejhg.2008.229. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050722 Free PMC article. No abstract available.
Predictive testing for BRCA1 and 2 mutations: a male contribution.
Daly PA, Nolan C, Green A, Ormiston W, Cody N, McDevitt T, O'hIci B, Byrne D, McDermott E, Carney DN, O'Higgins N, Barton DE. Daly PA, et al. Among authors: mcdevitt t. Ann Oncol. 2003 Apr;14(4):549-53. doi: 10.1093/annonc/mdg164. Ann Oncol. 2003. PMID: 12649099 Free article.
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
Farrell MP, Hughes DJ, Berry IR, Gallagher DJ, Glogowski EA, Payne SJ, Kennedy MJ, Clarke RM, White SA, Muldoon CB, Macdonald F, Rehal P, Crompton D, Roring S, Duke ST, McDevitt T, Barton DE, Hodgson SV, Green AJ, Daly PA. Farrell MP, et al. Among authors: mcdevitt t. Fam Cancer. 2012 Sep;11(3):509-18. doi: 10.1007/s10689-012-9544-4. Fam Cancer. 2012. PMID: 22773173 Review.
199 results