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Items: 1 to 20 of 180

1.

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

Schubert JA, Landis BJ, Shikany AR, Hinton RB, Ware SM.

Am J Med Genet A. 2016 May;170A(5):1288-94. doi: 10.1002/ajmg.a.37568. Epub 2016 Feb 7.

2.

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2015 Sep 2;97(17):1411-7. doi: 10.2106/JBJS.O.00290.

3.

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 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19.

PMID:
25046559
4.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, von Kodolitsch Y, Rosenberger G.

Eur J Hum Genet. 2014 Jul;22(7):944-8. doi: 10.1038/ejhg.2013.252. Epub 2013 Nov 6.

5.

The Loeys-Dietz syndrome: an update for the clinician.

Van Hemelrijk C, Renard M, Loeys B.

Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220. Review.

PMID:
20838339
6.

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL.

Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.

7.

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.

8.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G.

Mol Cell Probes. 2015 Oct;29(5):330-4. doi: 10.1016/j.mcp.2015.07.003. Epub 2015 Jul 13.

PMID:
26184463
9.

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

Hannuksela M, Stattin EL, Klar J, Ameur A, Johansson B, Sörensen K, Carlberg B.

BMC Med Genet. 2016 Sep 1;17(1):61. doi: 10.1186/s12881-016-0326-y.

10.

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM.

Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20.

11.

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Ritelli M, Chiarelli N, Dordoni C, Quinzani S, Venturini M, Maroldi R, Calzavara-Pinton P, Colombi M.

BMC Med Genet. 2014 Aug 28;15:91. doi: 10.1186/s12881-014-0091-8.

12.

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, Peeters N, Saenen J, Vrints C, Lacro RV, Roden D, Wuyts W, Dietz HC, Mortier G, Loeys BL, Van Laer L.

Hum Mutat. 2015 Aug;36(8):808-14. doi: 10.1002/humu.22802. Epub 2015 Jun 13.

PMID:
25907466
13.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM.

Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.

14.

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.

Shalata A, Mahroom M, Milewicz DM, Limin G, Kassum F, Badarna K, Tarabeih N, Assy N, Fell R, Cohen H, Nashashibi M, Livoff A, Azab M, Habib G, Geiger D, Weissbrod O, Nseir W.

Orphanet J Rare Dis. 2018 Mar 15;13(1):41. doi: 10.1186/s13023-018-0769-7.

15.

A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.

Courtois A, Coppieters W, Bours V, Defraigne JO, Colige A, Sakalihasan N.

Eur J Med Genet. 2017 Apr;60(4):228-231. doi: 10.1016/j.ejmg.2017.02.001. Epub 2017 Feb 7.

PMID:
28185953
16.

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 4;14(1):115. doi: 10.1186/s12967-016-0870-4.

17.

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; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

18.

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.

Keravnou A, Bashiardes E, Michailidou K, Soteriou M, Moushi A, Cariolou M.

BMC Med Genet. 2018 Dec 7;19(1):208. doi: 10.1186/s12881-018-0728-0.

19.

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Mazzella JM, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J.

Clin Genet. 2017 Mar;91(3):458-462. doi: 10.1111/cge.12838. Epub 2016 Sep 13.

PMID:
27440102
20.

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.

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