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4. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Regalado ES; Guo DC; Villamizar C; Avidan N; Gilchrist D; McGillivray B; Clarke L; Bernier F; Santos-Cortez RL; Leal SM; Bertoli-Avella AM; Shendure J; Rieder MJ; Nickerson DA; ; Milewicz DM Circ Res; 2011 Sep; 109(6):680-6. PubMed ID: 21778426 [TBL] [Abstract][Full Text] [Related]
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6. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. Poninska JK; Bilinska ZT; Franaszczyk M; Michalak E; Rydzanicz M; Szpakowski E; Pollak A; Milanowska B; Truszkowska G; Chmielewski P; Sioma A; Janaszek-Sitkowska H; Klisiewicz A; Michalowska I; Makowiecka-Ciesla M; Kolsut P; Stawinski P; Foss-Nieradko B; Szperl M; Grzybowski J; Hoffman P; Januszewicz A; Kusmierczyk M; Ploski R J Transl Med; 2016 May; 14(1):115. PubMed ID: 27146836 [TBL] [Abstract][Full Text] [Related]
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8. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Guo DC; Regalado E; Casteel DE; Santos-Cortez RL; Gong L; Kim JJ; Dyack S; Horne SG; Chang G; Jondeau G; Boileau C; Coselli JS; Li Z; Leal SM; Shendure J; Rieder MJ; Bamshad MJ; Nickerson DA; ; ; Kim C; Milewicz DM Am J Hum Genet; 2013 Aug; 93(2):398-404. PubMed ID: 23910461 [TBL] [Abstract][Full Text] [Related]
10. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Milewicz DM; Regalado ES; Shendure J; Nickerson DA; Guo DC Trends Cardiovasc Med; 2014 Feb; 24(2):53-60. PubMed ID: 23953976 [TBL] [Abstract][Full Text] [Related]
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12. Mutations in myosin light chain kinase cause familial aortic dissections. Wang L; Guo DC; Cao J; Gong L; Kamm KE; Regalado E; Li L; Shete S; He WQ; Zhu MS; Offermanns S; Gilchrist D; Elefteriades J; Stull JT; Milewicz DM Am J Hum Genet; 2010 Nov; 87(5):701-7. PubMed ID: 21055718 [TBL] [Abstract][Full Text] [Related]
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14. Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. Gago-Díaz M; Blanco-Verea A; Teixidó-Turà G; Valenzuela I; Del Campo M; Borregan M; Sobrino B; Amigo J; García-Dorado D; Evangelista A; Carracedo A; Brion M Clin Chim Acta; 2014 Nov; 437():88-92. PubMed ID: 25046559 [TBL] [Abstract][Full Text] [Related]
15. Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection. Wolford BN; Hornsby WE; Guo D; Zhou W; Lin M; Farhat L; McNamara J; Driscoll A; Wu X; Schmidt EM; Norton EL; Mathis MR; Ganesh SK; Douville NJ; Brummett CM; Kitzman J; Chen YE; Kim K; Deeb GM; Patel H; Eagle KA; Milewicz DM; J Willer C; Yang B Circ Genom Precis Med; 2019 Jun; 12(6):e002476. PubMed ID: 31211624 [TBL] [Abstract][Full Text] [Related]
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19. Actual management of patients with familial ascending aortic aneurysms and type-A aortic dissections. Weigang E; Chang XC; Munk-Schulenburg S; Richter H; von Samson P; Goebel H; Frydrychowicz A; Geibel A; Ammann S; Schwering L; Brunner T; Severin T; Czerny M; Beyersdorf F Thorac Cardiovasc Surg; 2007 Feb; 55(1):19-23. PubMed ID: 17285469 [TBL] [Abstract][Full Text] [Related]
20. Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families. Hasham SN; Lewin MR; Tran VT; Pannu H; Muilenburg A; Willing M; Milewicz DM Ann Emerg Med; 2004 Jan; 43(1):79-82. PubMed ID: 14707946 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]