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Items: 1 to 20 of 24

1.

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
2.

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

Verstraeten A, Alaerts M, Van Laer L, Loeys B.

Hum Mutat. 2016 Jun;37(6):524-31. doi: 10.1002/humu.22977. Epub 2016 Mar 14. Review.

PMID:
26919284
3.

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.

4.

Massive hemoptysis in Loeys-Dietz syndrome.

Bennett CL, Aziz H, Sparks E, Shah T, Yoder M, MacCarrick G, Dietz HC.

Am J Med Genet A. 2016 Mar;170(3):725-7. doi: 10.1002/ajmg.a.37487. Epub 2015 Nov 27.

PMID:
26614122
5.

Pregnancy and Thoracic Aortic Disease: Managing the Risks.

Wanga S, Silversides C, Dore A, de Waard V, Mulder B.

Can J Cardiol. 2016 Jan;32(1):78-85. doi: 10.1016/j.cjca.2015.09.003. Epub 2015 Sep 18. Review.

PMID:
26604124
6.

Genetics of hereditary large vessel diseases.

Morisaki T, Morisaki H.

J Hum Genet. 2016 Jan;61(1):21-6. doi: 10.1038/jhg.2015.119. Epub 2015 Oct 8. Review.

PMID:
26446364
7.

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.

Blinc A, Maver A, Rudolf G, Tasič J, Pretnar Oblak J, Berden P, Peterlin B.

Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21. doi: 10.1016/j.ejvs.2015.08.003. Epub 2015 Sep 26. Review.

8.

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.

9.

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
10.

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
11.

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

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JM, de Graaf BM, van de Beek G, Gallo E, Kruithof BP, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GW, 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 IM, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-36. doi: 10.1016/j.jacc.2015.01.040.

12.

Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm.

Robertson E, Dilworth C, Lu Y, Hambly B, Jeremy R.

Biophys Rev. 2015 Mar;7(1):105-115. doi: 10.1007/s12551-014-0147-1. Epub 2014 Dec 6.

13.

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.

14.

Aorta pathology and pregnancy.

van Hagen IM, Roos-Hesselink JW.

Best Pract Res Clin Obstet Gynaecol. 2014 May;28(4):537-50. doi: 10.1016/j.bpobgyn.2014.03.007. Epub 2014 Mar 27. Review.

PMID:
24726851
15.

Loeys-Dietz syndrome.

Van Laer L, Dietz H, Loeys B.

Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. Review.

PMID:
24443023
16.

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.

17.

Loeys-Dietz Syndrome.

Loeys BL, Dietz HC.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Feb 28 [updated 2013 Jul 11].

18.

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Meuwissen ME, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM.

Am J Med Genet A. 2013 Jun;161A(6):1376-80. doi: 10.1002/ajmg.a.35858. Epub 2013 Apr 23.

PMID:
23613326
19.

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL.

Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29.

PMID:
23554019
20.

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.

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