Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

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
2.

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.

3.

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
4.

Arterial tortuosity in genetic arteriopathies.

Morris SA.

Curr Opin Cardiol. 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218. Review.

5.

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.

6.

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.

7.

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.

8.

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
9.

A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

Togashi Y, Sakoda H, Nishimura A, Matsumoto N, Hiraoka H, Matsuzawa Y.

Intern Med. 2007;46(24):1995-2000. Epub 2007 Dec 17.

10.

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T.

BMC Res Notes. 2013 Nov 12;6:456. doi: 10.1186/1756-0500-6-456.

11.

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
12.

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.

Gallo EM, Loch DC, Habashi JP, Calderon JF, Chen Y, Bedja D, van Erp C, Gerber EE, Parker SJ, Sauls K, Judge DP, Cooke SK, Lindsay ME, Rouf R, Myers L, ap Rhys CM, Kent KC, Norris RA, Huso DL, Dietz HC.

J Clin Invest. 2014 Jan;124(1):448-60. doi: 10.1172/JCI69666. Epub 2013 Dec 20.

13.

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
14.

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
15.

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.

16.

[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
17.

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
18.

Imaging findings in a child with Loeys-Dietz syndrome.

Dhouib A, Beghetti M, Didier D.

Circulation. 2012 Jul 24;126(4):507-8. doi: 10.1161/CIRCULATIONAHA.112.103192. No abstract available.

19.

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
20.

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

Barnett CP, Chitayat D, Bradley TJ, Wang Y, Hinek A.

Eur J Hum Genet. 2011 Jun;19(6):624-33. doi: 10.1038/ejhg.2010.259. Epub 2011 Jan 26.

Supplemental Content

Support Center