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MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. Guo DC, et al. Among authors: boileau c. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557781 Free PMC article.
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.
Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaïti-Pellié C, Junien C, Boileau C. Collod G, et al. Among authors: boileau c. Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264. Nat Genet. 1994. PMID: 7632217 Free PMC article.
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, Pocovi M, Rosa A, Farnier M, Martinez M, Junien C, Boileau C. Varret M, et al. Among authors: boileau c. Am J Hum Genet. 1999 May;64(5):1378-87. doi: 10.1086/302370. Am J Hum Genet. 1999. PMID: 10205269 Free PMC article.
[Aortic aneurysms excluding Marfan's syndrome].
Jondeau G, Muti C, Boileau C. Jondeau G, et al. Among authors: boileau c. Arch Mal Coeur Vaiss. 2003 Nov;96(11):1074-80. Arch Mal Coeur Vaiss. 2003. PMID: 14694783 Review. French.
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Among authors: boileau c. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.
361 results