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Items: 1 to 20 of 182

1.

Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure.

Takenouchi T, Saito H, Maruoka R, Oishi N, Torii C, Maeda J, Takahashi T, Kosaki K.

Am J Med Genet A. 2013 Jul;161A(7):1733-6. doi: 10.1002/ajmg.a.35953. Epub 2013 May 17.

PMID:
23686861
2.

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.

3.

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
4.

Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Sheikhzadeh S, Brockstaedt L, Habermann CR, Sondermann C, Bannas P, Mir TS, Staebler A, Seidel H, Keyser B, Arslan-Kirchner M, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y.

Clin Genet. 2014 Dec;86(6):545-51. doi: 10.1111/cge.12308. Epub 2013 Dec 17.

PMID:
24344637
5.

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
6.

Multiple facial milia in patients with Loeys-Dietz syndrome.

Lloyd BM, Braverman AC, Anadkat MJ.

Arch Dermatol. 2011 Feb;147(2):223-6. doi: 10.1001/archdermatol.2010.284. Epub 2010 Oct 18.

PMID:
20956634
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.

[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
9.

A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.

Fujita D, Takeda N, Morita H, Kato M, Nishimura H, Inuzuka R, Taniguchi Y, Nawata K, Hyodo H, Imai Y, Hirata Y, Komuro I.

Int J Cardiol. 2015 Dec 15;201:288-90. doi: 10.1016/j.ijcard.2015.07.109. Epub 2015 Aug 8. No abstract available.

PMID:
26301661
10.

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
11.

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
12.

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
13.

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.

14.

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.

15.

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
16.

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
17.

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
18.

Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Chambers JE, Dalton LE, Subramanian DN, Gooptu B, Balan A, Park SM, Holden S, Marciniak SJ.

Eur Respir J. 2015 Dec;46(6):1832-5. doi: 10.1183/13993003.00952-2015. Epub 2015 Oct 22. No abstract available.

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.

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

Ting TW, Lai AH, Choo JT, Tan TH.

Eur J Pediatr. 2014 Mar;173(3):387-91. doi: 10.1007/s00431-013-2187-0. Epub 2013 Oct 22.

PMID:
24146167

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