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Items: 1 to 20 of 75

1.

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, Jeremy R, Odent S, Adès LC, Bakshi M, Holman K, LeMaire S, Milleron O, Langeois M, Spentchian M, Aubart M, Boileau C, Pyeritz R, Milewicz DM; Montalcino Aortic Consortium.

Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21.

2.

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D; Brigham Genomic Medicine, Mecham RP, Frank NY, Stitziel NO.

Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8759-64. doi: 10.1073/pnas.1601442113. Epub 2016 Jul 18.

3.

Multimodality Assessment of Ascending Aortic Diameters: Comparison of Different Measurement Methods.

Rodríguez-Palomares JF, Teixidó-Tura G, Galuppo V, Cuéllar H, Laynez A, Gutiérrez L, González-Alujas MT, García-Dorado D, Evangelista A.

J Am Soc Echocardiogr. 2016 Sep;29(9):819-826.e4. doi: 10.1016/j.echo.2016.04.006. Epub 2016 Jun 7.

PMID:
27288090
4.

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA.

Nat Commun. 2016 Apr 6;7:10953. doi: 10.1038/ncomms10953.

5.

The Need for Standardized Methods for Measuring the Aorta: Multimodality Core Lab Experience From the GenTAC Registry.

Asch FM, Yuriditsky E, Prakash SK, Roman MJ, Weinsaft JW, Weissman G, Weigold WG, Morris SA, Ravekes WJ, Holmes KW, Silberbach M, Milewski RK, Kroner BL, Whitworth R, Eagle KA, Devereux RB, Weissman NJ; GenTAC Investigators.

JACC Cardiovasc Imaging. 2016 Mar;9(3):219-26. doi: 10.1016/j.jcmg.2015.06.023. Epub 2016 Feb 17.

6.

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM.

J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8.

7.

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM.

Circ Res. 2016 Mar 18;118(6):928-34. doi: 10.1161/CIRCRESAHA.115.307130. Epub 2016 Jan 12.

8.

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Milewicz DM.

Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20.

9.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.

10.

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Regalado ES, Guo DC, Prakash S, Bensend TA, Flynn K, Estrera A, Safi H, Liang D, Hyland J, Child A, Arno G, Boileau C, Jondeau G, Braverman A, Moran R, Morisaki T, Morisaki H; Montalcino Aortic Consortium, Pyeritz R, Coselli J, LeMaire S, Milewicz DM.

Circ Cardiovasc Genet. 2015 Jun;8(3):457-64. doi: 10.1161/CIRCGENETICS.114.000943. Epub 2015 Mar 10.

11.

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.

Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31.

12.

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C.

Am J Hum Genet. 2014 Dec 4;95(6):736-43. doi: 10.1016/j.ajhg.2014.10.018. Epub 2014 Nov 26.

13.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators.

N Engl J Med. 2014 Nov 27;371(22):2061-71. doi: 10.1056/NEJMoa1404731. Epub 2014 Nov 18.

14.

Trends in aortic dissection hospitalizations, interventions, and outcomes among medicare beneficiaries in the United States, 2000-2011.

Mody PS, Wang Y, Geirsson A, Kim N, Desai MM, Gupta A, Dodson JA, Krumholz HM.

Circ Cardiovasc Qual Outcomes. 2014 Nov;7(6):920-8. doi: 10.1161/CIRCOUTCOMES.114.001140. Epub 2014 Oct 21.

15.

Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

Milewicz DM, Regalado ES.

J Thorac Cardiovasc Surg. 2015 Feb;149(2 Suppl):S3-5. doi: 10.1016/j.jtcvs.2014.07.070. Epub 2014 Aug 5. Review.

16.

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

Brodsky MC, Turan KE, Khanna CL, Patton A, Kirmani S.

J AAPOS. 2014 Aug;18(4):393-5. doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3. Erratum in: J AAPOS. 2014 Oct;18(5):518.

PMID:
24998021
17.

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

Matyas G, Naef P, Tollens M, Oexle K.

Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5. No abstract available.

PMID:
24798638
18.

Loeys-Dietz syndrome: a primer for diagnosis and management.

MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd.

Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Review.

19.

How does the ascending aorta geometry change when it dissects?

Rylski B, Blanke P, Beyersdorf F, Desai ND, Milewski RK, Siepe M, Kari FA, Czerny M, Carrel T, Schlensak C, Krüger T, Mack MJ, Brinkman WT, Mohr FW, Etz CD, Luehr M, Bavaria JE.

J Am Coll Cardiol. 2014 Apr 8;63(13):1311-1319. doi: 10.1016/j.jacc.2013.12.028. Epub 2014 Feb 5.

20.

Acute aortic dissections with pregnancy in women with ACTA2 mutations.

Regalado ES, Guo DC, Estrera AL, Buja LM, Milewicz DM.

Am J Med Genet A. 2014 Jan;164A(1):106-12. doi: 10.1002/ajmg.a.36208. Epub 2013 Nov 15.

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