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Results: 1 to 20 of 127

1.

Genetics of thoracic aortic aneurysms.

Jondeau G, Boileau C.

Curr Atheroscler Rep. 2012 Jun;14(3):219-26. doi: 10.1007/s11883-012-0241-4. Review.

PMID:
22415348
[PubMed - indexed for MEDLINE]
2.

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B.

Hum Mutat. 2006 Aug;27(8):760-9.

PMID:
16791849
[PubMed - indexed for MEDLINE]
3.

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. doi: 10.1136/hrt.2010.204388. Epub 2011 Jan 6.

PMID:
21212136
[PubMed - indexed for MEDLINE]
4.

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.

Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H.

Annu Rev Genomics Hum Genet. 2008;9:283-302. doi: 10.1146/annurev.genom.8.080706.092303. Review.

PMID:
18544034
[PubMed - indexed for MEDLINE]
5.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

PMID:
18781618
[PubMed - indexed for MEDLINE]
6.

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.

Hum Mutat. 2006 Aug;27(8):770-7.

PMID:
16799921
[PubMed - indexed for MEDLINE]
7.

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.

J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18.

PMID:
19542084
[PubMed - indexed for MEDLINE]
8.

Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.

Chen J, Li B, Yang Y, Hu J, Zhao T, Gong Y, Tan Z.

Clin Invest Med. 2010 Feb 1;33(1):E14-21.

PMID:
20144264
[PubMed - indexed for MEDLINE]
9.

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

Morisaki H, Akutsu K, Ogino H, Kondo N, Yamanaka I, Tsutsumi Y, Yoshimuta T, Okajima T, Matsuda H, Minatoya K, Sasaki H, Tanaka H, Ishibashi-Ueda H, Morisaki T.

Hum Mutat. 2009 Oct;30(10):1406-11. doi: 10.1002/humu.21081.

PMID:
19639654
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

Söylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, Schmidtke J.

Clin Genet. 2009 Mar;75(3):265-70. doi: 10.1111/j.1399-0004.2008.01126.x. Epub 2009 Jan 20.

PMID:
19159394
[PubMed - indexed for MEDLINE]
13.

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

Hoffjan S, Waldmüller S, Blankenfeldt W, Kötting J, Gehle P, Binner P, Epplen JT, Scheffold T.

Eur J Hum Genet. 2011 May;19(5):520-4. doi: 10.1038/ejhg.2010.239. Epub 2011 Jan 19.

PMID:
21248741
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

Arslan-Kirchner M, Epplen JT, Faivre L, Jondeau G, Schmidtke J, De Paepe A, Loeys B.

Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.68. Epub 2011 Apr 27. No abstract available.

PMID:
21522183
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A.

Circulation. 1996 Dec 1;94(11):2708-11.

PMID:
8941093
[PubMed - indexed for MEDLINE]
Free Article
16.

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G.

Circulation. 2009 Dec 22;120(25):2541-9. doi: 10.1161/CIRCULATIONAHA.109.887042. Epub 2009 Dec 7.

PMID:
19996017
[PubMed - indexed for MEDLINE]
Free Article
17.

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J.

Int J Cardiol. 2013 May 10;165(2):314-21. doi: 10.1016/j.ijcard.2011.08.079. Epub 2011 Sep 19.

PMID:
21937134
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, Sivalingam S, Bonin M, Arslan-Kirchner M, von Kodolitsch Y, Binner P, Scheffold T, Stuhrmann M, Waldmüller S.

Mol Cell Probes. 2013 Apr;27(2):103-8. doi: 10.1016/j.mcp.2012.10.002. Epub 2012 Nov 6.

PMID:
23142374
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
22772368
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The genetics and genomics of thoracic aortic disease.

Pomianowski P, Elefteriades JA.

Ann Cardiothorac Surg. 2013 May;2(3):271-9. doi: 10.3978/j.issn.2225-319X.2013.05.12.

PMID:
23977594
[PubMed]
Free PMC Article

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