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Holt-Oram Syndrome.

McDermott DA, Fong JC, Basson CT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Jul 20 [updated 2019 May 23].


MAA868, a novel FXI antibody with a unique binding mode, shows durable effects on markers of anticoagulation in humans.

Koch AW, Schiering N, Melkko S, Ewert S, Salter J, Zhang Y, McCormack P, Yu J, Huang X, Chiu YH, Chen Z, Schleeger S, Horny G, DiPetrillo K, Muller L, Hein A, Villard F, Scharenberg M, Ramage P, Hassiepen U, Côté S, DeGagne J, Krantz C, Eder J, Stoll B, Kulmatycki K, Feldman DL, Hoffmann P, Basson CT, Frost RJA, Khder Y.

Blood. 2019 Mar 28;133(13):1507-1516. doi: 10.1182/blood-2018-10-880849. Epub 2019 Jan 28.


Arterial Effects of Canakinumab in Patients With Atherosclerosis and Type 2 Diabetes or Glucose Intolerance.

Choudhury RP, Birks JS, Mani V, Biasiolli L, Robson MD, L'Allier PL, Gingras MA, Alie N, McLaughlin MA, Basson CT, Schecter AD, Svensson EC, Zhang Y, Yates D, Tardif JC, Fayad ZA.

J Am Coll Cardiol. 2016 Oct 18;68(16):1769-1780. doi: 10.1016/j.jacc.2016.07.768.


Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry.

Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, Morris S, Milewicz DM, Prakash S, Maslen C, Song HK, Silberbach GM, Shohet RV, McDonnell N, Hendershot T, Eagle KA, Asch FM; GENTAC Registry Investigators.

J Am Coll Cardiol. 2016 Jun 14;67(23):2744-2754. doi: 10.1016/j.jacc.2016.03.570.


Tbx5 is required for avian and Mammalian epicardial formation and coronary vasculogenesis.

Diman NY, Brooks G, Kruithof BP, Elemento O, Seidman JG, Seidman CE, Basson CT, Hatcher CJ.

Circ Res. 2014 Oct 24;115(10):834-44. doi: 10.1161/CIRCRESAHA.115.304379. Epub 2014 Sep 22.


Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.

Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, Engler MB, Goldmuntz E, Herrington DM, Hershberger RE, Hong Y, Johnson JA, Kittner SJ, McDermott DA, Meschia JF, Mestroni L, O'Donnell CJ, Psaty BM, Vasan RS, Ruel M, Shen WK, Terzic A, Waldman SA; American Heart Association Council on Functional Genomics and Translational Biology; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Basic Cardiovascular Sciences; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular and Stroke Nursing; American Heart Association Stroke Council.

Circulation. 2013 Dec 24;128(25):2813-51. doi: 10.1161/01.cir.0000437913.98912.1d. Epub 2013 Dec 2. No abstract available. Erratum in: Circulation. 2014 Mar 18;129(11):e398. Assimes, Thermistocles L [corrected to Assimes, Themistocles L].


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; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Kim C, Milewicz DM.

Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1.


Keratin gene expression profiles after digit amputation in C57BL/6 vs. regenerative MRL mice imply an early regenerative keratinocyte activated-like state.

Cheng CH, Leferovich J, Zhang XM, Bedelbaeva K, Gourevitch D, Hatcher CJ, Basson CT, Heber-Katz E, Marx KA.

Physiol Genomics. 2013 Jun 3;45(11):409-21. doi: 10.1152/physiolgenomics.00142.2012. Epub 2013 Mar 19.


TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

Bee KJ, Wilkes DC, Devereux RB, Basson CT, Hatcher CJ.

Circ Cardiovasc Genet. 2012 Dec;5(6):621-9. doi: 10.1161/CIRCGENETICS.112.964064. Epub 2012 Oct 24.


The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II.

Kroner BL, Tolunay HE, Basson CT, Pyeritz RE, Holmes KW, Maslen CL, Milewicz DM, LeMaire SA, Hendershot T, Desvigne-Nickens P, Devereux RB, Dietz HC, Song HK, Ringer D, Mitchell M, Weinsaft JW, Ravekes W, Menashe V, Eagle KA.

Am Heart J. 2011 Oct;162(4):627-632.e1. doi: 10.1016/j.ahj.2011.07.002.


Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms.

Mendoza DD, Kochar M, Devereux RB, Basson CT, Min JK, Holmes K, Dietz HC, Milewicz DM, LeMaire SA, Pyeritz RE, Bavaria JE, Maslen CL, Song H, Kroner BL, Eagle KA, Weinsaft JW; GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Study Investigators.

Ann Thorac Surg. 2011 Sep;92(3):904-12. doi: 10.1016/j.athoracsur.2011.03.130. Epub 2011 Jul 2.


Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.

Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators.

PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16.


Impact of genetic insights into mendelian disease on cardiovascular clinical practice.

Kim L, Devereux RB, Basson CT.

Circulation. 2011 Feb 8;123(5):544-50. doi: 10.1161/CIRCULATIONAHA.109.914804. Review. No abstract available.


Can genetic testing improve our aim in hypertrophic cardiomyopathy?

Charitakis K, Basson CT.

Circ Res. 2010 May 14;106(9):1446-8. doi: 10.1161/CIRCRESAHA.110.220343. No abstract available.


The molecular genetics of congenital heart disease: a review of recent developments.

Wolf M, Basson CT.

Curr Opin Cardiol. 2010 May;25(3):192-7. doi: 10.1097/HCO.0b013e328337b4ce. Review.


Specification of the cardiac conduction system by transcription factors.

Hatcher CJ, Basson CT.

Circ Res. 2009 Sep 25;105(7):620-30. doi: 10.1161/CIRCRESAHA.109.204123. Review.


Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions.

Song HK, Bavaria JE, Kindem MW, Holmes KW, Milewicz DM, Maslen CL, Pyeritz RE, Basson CT, Eagle K, Tolunay HE, Kroner BL, Dietz H, Menashe V, Devereux RB, Desvigne-Nickens P, Ravekes W, Weinsaft JW, Brambilla D, Stylianou MP, Hendershot T, Mitchell MS, LeMaire SA; National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium.

Ann Thorac Surg. 2009 Sep;88(3):781-7; discussion 787-8. doi: 10.1016/j.athoracsur.2009.04.034.


Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).

Eagle KA; GenTAC Consortium.

Am Heart J. 2009 Feb;157(2):319-26. doi: 10.1016/j.ahj.2008.10.005. Epub 2008 Dec 17.


Secreted Frizzled-related protein 2 is a procollagen C proteinase enhancer with a role in fibrosis associated with myocardial infarction.

Kobayashi K, Luo M, Zhang Y, Wilkes DC, Ge G, Grieskamp T, Yamada C, Liu TC, Huang G, Basson CT, Kispert A, Greenspan DS, Sato TN.

Nat Cell Biol. 2009 Jan;11(1):46-55. doi: 10.1038/ncb1811. Epub 2008 Dec 14.


Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome.

McDermott DA, Hatcher CJ, Basson CT.

Circ Res. 2008 Sep 26;103(7):e96. doi: 10.1161/CIRCRESAHA.108.181834. No abstract available.

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