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Genome screening of coeliac disease.
Popat S, Bevan S, Braegger CP, Busch A, O'Donoghue D, Falth-Magnusson K, Godkin A, Hogberg L, Holmes G, Hosie KB, Howdle PD, Jenkins H, Jewell D, Johnston S, Kennedy NP, Kumar P, Logan RF, Love AH, Marsh MN, Mulder CJ, Sjoberg K, Stenhammar L, Walker-Smith J, Houlston RS. Popat S, et al. Among authors: busch a. J Med Genet. 2002 May;39(5):328-31. doi: 10.1136/jmg.39.5.328. J Med Genet. 2002. PMID: 12011149 Free PMC article. No abstract available.
Contribution of the MHC region to the familial risk of coeliac disease.
Bevan S, Popat S, Braegger CP, Busch A, O'Donoghue D, Falth-Magnusson K, Ferguson A, Godkin A, Hogberg L, Holmes G, Hosie KB, Howdle PD, Jenkins H, Jewell D, Johnston S, Kennedy NP, Kerr G, Kumar P, Logan RF, Love AH, Marsh M, Mulder CJ, Sjoberg K, Stenhammer L, Walker-Smith J, Marossy AM, Houlston RS. Bevan S, et al. Among authors: busch a. J Med Genet. 1999 Sep;36(9):687-90. J Med Genet. 1999. PMID: 10507725 Free PMC article.
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. Esmailpour T, et al. Among authors: busch a. J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431331 Free PMC article.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Simon M, et al. Among authors: busch a. PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25807530 Free PMC article.
925 results