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Items: 1 to 20 of 127

1.

Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.

Ma BO, Song BG, Yang HJ, Jeon GJ, Lee JU, Kim TH, Kang GH, Park YH, Chun WJ, Oh JH.

Heart Lung Circ. 2012 Apr;21(4):215-7. doi: 10.1016/j.hlc.2012.01.001. Epub 2012 Feb 9.

PMID:
22325833
2.

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K.

Turk J Pediatr. 2012 Mar-Apr;54(2):198-202.

PMID:
22734312
3.

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M.

Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24.

4.

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

Breckpot J, Budts W, De Zegher F, Vermeesch JR, Devriendt K.

Eur J Med Genet. 2010 Nov-Dec;53(6):408-10. doi: 10.1016/j.ejmg.2010.08.004. Epub 2010 Sep 20.

PMID:
20813212
5.

A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K.

Genet Couns. 2010;21(2):225-32.

PMID:
20681224
6.

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A.

J Appl Genet. 2009;50(4):405-10. Review.

PMID:
19875893
7.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.

N Engl J Med. 2006 Aug 24;355(8):788-98.

8.

Valve-sparing aortic root replacement in Loeys-Dietz syndrome.

Patel ND, Arnaoutakis GJ, George TJ, Allen JG, Alejo DE, Dietz HC, Cameron DE, Vricella LA.

Ann Thorac Surg. 2011 Aug;92(2):556-60; discussion 560-1. doi: 10.1016/j.athoracsur.2011.04.003.

PMID:
21801912
9.

Acute dilatation of the ascending aorta and aortic valve regurgitation in Loeys-Dietz syndrome.

Nakajima T, Tachibana K, Miyaki Y, Takagi N, Morisaki T, Higami T.

Ann Thorac Surg. 2014 Jun;97(6):2188-90. doi: 10.1016/j.athoracsur.2013.08.021.

PMID:
24882305
10.

Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation.

Edelman JJ, Ramponi F, Bannon PG, Jeremy R.

Interact Cardiovasc Thorac Surg. 2011 May;12(5):863-5. doi: 10.1510/icvts.2010.258681. Epub 2011 Feb 14.

PMID:
21324918
11.

Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome.

Inoue Y, Minatoya K, Oda T, Itonaga T, Seike Y, Tanaka H, Sasaki H, Kobayashi J.

Ann Thorac Surg. 2016 Mar;101(3):1185-8. doi: 10.1016/j.athoracsur.2015.05.071. Review.

PMID:
26897206
12.

Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders.

Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, Walter JE, Ehl S.

Clin Immunol. 2014 Jan;150(1):43-50. doi: 10.1016/j.clim.2013.11.008. Epub 2013 Nov 19.

PMID:
24333532
13.

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
14.

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

Yang JH, Ki CS, Han H, Song BG, Jang SY, Chung TY, Sung K, Lee HJ, Kim DK.

J Hum Genet. 2012 Jan;57(1):52-6. doi: 10.1038/jhg.2011.130. Epub 2011 Nov 24. Erratum in: J Hum Genet. 2012 Jun;57(6):398.

PMID:
22113417
15.

Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.

Teixidó-Tura G, Franken R, Galuppo V, Gutiérrez García-Moreno L, Borregan M, Mulder BJ, García-Dorado D, Evangelista A.

Heart. 2016 Apr;102(8):626-32. doi: 10.1136/heartjnl-2015-308535. Epub 2016 Feb 4.

PMID:
26848186
16.

Proximal paraparesis due to aortic dissection extending into bilateral carotid arteries in a patient with Loeys-Dietz syndrome.

Goshgarian C, Lugo A, Salazar R.

J Clin Neurosci. 2013 Dec;20(12):1790-2. doi: 10.1016/j.jocn.2012.11.013. Epub 2013 Apr 13.

PMID:
23591182
17.

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

De Potter MJ, Edouard T, Amadieu R, Plaisancié J, Julia S, Hadeed K, Hascoët S, Acar P, Dulac Y.

Arch Pediatr. 2016 May;23(5):504-7. doi: 10.1016/j.arcped.2016.02.001. Epub 2016 Mar 24. French.

PMID:
27017362
18.

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Akazawa Y, Inaba Y, Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosaki K, Kosho T, Koike K.

Am J Med Genet A. 2015 Oct;167A(10):2435-9. doi: 10.1002/ajmg.a.37202. Epub 2015 Jun 22.

PMID:
26096872
19.

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.

20.

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

Chung BH, Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D.

Am J Med Genet A. 2014 Feb;164A(2):461-6. doi: 10.1002/ajmg.a.36246. Epub 2013 Nov 5.

PMID:
24194458

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