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Items: 1 to 20 of 23

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1.

Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.

Aoki R, Srivatanakul K, Osada T, Hotta K, Sorimachi T, Matsumae M, Morisaki H.

Interv Neuroradiol. 2017 Apr;23(2):206-210. doi: 10.1177/1591019916686054. Epub 2017 Jan 23.

PMID:
28304197
2.

Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?

Woolnough R, Dhawan A, Dow K, Walia JS.

Pediatrics. 2017 Mar;139(3). pii: e20161281. doi: 10.1542/peds.2016-1281. Epub 2017 Feb 16.

PMID:
28209770
3.

Straight incision for extended descending and thoracoabdominal aortic replacement: novel and simple exposure with rib-cross thoracotomy.

Minatoya K, Seike Y, Itonaga T, Oda T, Inoue Y, Kawamoto N, Miura S, Tanaka H, Sasaki H, Kobayashi J.

Interact Cardiovasc Thorac Surg. 2016 Sep;23(3):367-70. doi: 10.1093/icvts/ivw140. Epub 2016 May 21.

PMID:
27209533
4.

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
5.

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.

6.

The neuromuscular differential diagnosis of joint hypermobility.

Donkervoort S, Bonnemann CG, Loeys B, Jungbluth H, Voermans NC.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):23-42. doi: 10.1002/ajmg.c.31433. Review. Erratum in: Am J Med Genet C Semin Med Genet. 2016 Jan;170A(1):285-6.

PMID:
25821091
7.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Review.

PMID:
25821090
8.

Adult surgical experience with Loeys-Dietz syndrome.

Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC.

Ann Thorac Surg. 2015 Apr;99(4):1275-81. doi: 10.1016/j.athoracsur.2014.11.021. Epub 2015 Feb 10.

PMID:
25678502
9.

Open thoracoabdominal aortic repair for chronic type B dissection.

Kouchoukos NT, Kulik A, Castner CF.

J Thorac Cardiovasc Surg. 2015 Feb;149(2 Suppl):S125-9. doi: 10.1016/j.jtcvs.2014.07.064. Epub 2014 Aug 4.

10.

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
11.
12.

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Furtado LV, Wooderchak-Donahue W, Rope AF, Yetman AT, Lewis T, Plant P, Bayrak-Toydemir P.

BMC Med Genet. 2011 Sep 21;12:119. doi: 10.1186/1471-2350-12-119.

13.

Endovascular repair of bilateral iliac artery aneurysms in a patient with Loeys-Dietz syndrome.

Casey K, Zayed M, Greenberg JI, Dalman RL, Lee JT.

Ann Vasc Surg. 2012 Jan;26(1):107.e5-10. doi: 10.1016/j.avsg.2011.06.005. Epub 2011 Aug 11.

PMID:
21835579
14.

Clipping of a cerebral aneurysm in a patient with Loeys-Dietz syndrome: case report.

Hughes BD, Powers CJ, Zomorodi AR.

Neurosurgery. 2011 Sep;69(3):E746-55; discussion E55. doi: 10.1227/NEU.0b013e31821964a3.

PMID:
21471839
15.

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.

16.

Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.

Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM.

AJNR Am J Neuroradiol. 2009 Sep;30(8):1614-9. doi: 10.3174/ajnr.A1651. Epub 2009 Jun 25.

17.

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
18.

Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.

Adès LC.

Clin Dysmorphol. 2008 Oct;17(4):243-8. doi: 10.1097/MCD.0b013e328303e5d3.

PMID:
18978651
19.

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A.

Clin Genet. 2007 Sep;72(3):188-98.

PMID:
17718856
20.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Am J Hum Genet. 2007 Sep;81(3):454-66. Epub 2007 Jul 25.

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