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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM. Pinard A, et al. Among authors: milewicz dm. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Brain. 2023. PMID: 37253099 Free PMC article.
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. Guo D, et al. Among authors: milewicz dm. Am J Med Genet. 2001 Jun 15;101(2):130-4. doi: 10.1002/1096-8628(20010615)101:2<130::aid-ajmg1333>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11391655
Genetic basis of thoracic aortic aneurysms and dissections.
Hasham SN, Guo DC, Milewicz DM. Hasham SN, et al. Among authors: milewicz dm. Curr Opin Cardiol. 2002 Nov;17(6):677-83. doi: 10.1097/00001573-200211000-00015. Curr Opin Cardiol. 2002. PMID: 12466712 Review.
Pathogenesis of thoracic and abdominal aortic aneurysms.
Guo DC, Papke CL, He R, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Ann N Y Acad Sci. 2006 Nov;1085:339-52. doi: 10.1196/annals.1383.013. Ann N Y Acad Sci. 2006. PMID: 17182954 Review.
Universal primer applications for pyrosequencing.
Guo DC, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Methods Mol Biol. 2007;373:57-62. doi: 10.1385/1-59745-377-3:57. Methods Mol Biol. 2007. PMID: 17185757
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Am J Hum Genet. 2009 May;84(5):617-27. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409525 Free PMC article.
311 results