These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. 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]
23. 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]
24. FBN1 mutations in patients with descending thoracic aortic dissections. Brautbar A; LeMaire SA; Franco LM; Coselli JS; Milewicz DM; Belmont JW Am J Med Genet A; 2010 Feb; 152A(2):413-6. PubMed ID: 20082464 [TBL] [Abstract][Full Text] [Related]
25. Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Sakai H; Suzuki S; Mizuguchi T; Imoto K; Yamashita Y; Doi H; Kikuchi M; Tsurusaki Y; Saitsu H; Miyake N; Masuda M; Matsumoto N Hum Genet; 2012 Apr; 131(4):591-9. PubMed ID: 22001912 [TBL] [Abstract][Full Text] [Related]
26. Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection. Zhang W; Han Q; Liu Z; Zhou W; Cao Q; Zhou W BMC Med Genet; 2018 Dec; 19(1):218. PubMed ID: 30577811 [TBL] [Abstract][Full Text] [Related]
27. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). Disabella E; Grasso M; Gambarin FI; Narula N; Dore R; Favalli V; Serio A; Antoniazzi E; Mosconi M; Pasotti M; Odero A; Arbustini E Heart; 2011 Feb; 97(4):321-6. PubMed ID: 21212136 [TBL] [Abstract][Full Text] [Related]
29. Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China. Li J; Yang L; Diao Y; Zhou L; Xin Y; Jiang L; Li R; Wang J; Duan W; Liu J Mol Genet Genomic Med; 2021 Oct; 9(10):e1800. PubMed ID: 34498425 [TBL] [Abstract][Full Text] [Related]
30. Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. Weerakkody R; Ross D; Parry DA; Ziganshin B; Vandrovcova J; Gampawar P; Abdullah A; Biggs J; Dumfarth J; Ibrahim Y; ; Bicknell C; Field M; Elefteriades J; Cheshire N; Aitman TJ Genet Med; 2018 Nov; 20(11):1414-1422. PubMed ID: 29543232 [TBL] [Abstract][Full Text] [Related]
31. Aortic stiffness in families with inherited non-syndromic thoracic aortic disease. Hannuksela M; Johansson B; Carlberg B Scand Cardiovasc J; 2018 Dec; 52(6):301-307. PubMed ID: 30606081 [TBL] [Abstract][Full Text] [Related]
32. Familial aortic disease and a large duplication in chromosome 16p13.1. Erhart P; Brandt T; Straub BK; Hausser I; Hentze S; Böckler D; Grond-Ginsbach C Mol Genet Genomic Med; 2018 May; 6(3):441-445. PubMed ID: 29441698 [TBL] [Abstract][Full Text] [Related]
33. Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China. Duan Y; Xiong J; Lai Z; Zhong Y; Tian C; Du Z; Luo Z; Yu J; Li W; Xu W; Wang Y; Ding T; Zhong X; Pan M; Qiu Y; Lan X; Chen T; Li P; Liu K; Gao M; Hu Y; Liu Z Orphanet J Rare Dis; 2023 Aug; 18(1):251. PubMed ID: 37644562 [TBL] [Abstract][Full Text] [Related]
40. Managing the aorta in patients with a PRKG1 mutation. Norton EL; Gordon D; Yang B J Thorac Cardiovasc Surg; 2019 Apr; 157(4):e107-e109. PubMed ID: 30415903 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]