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Results: 1 to 20 of 115

1.

Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.

Wendorff H, Pelisek J, Zimmermann A, Mayer K, Seidel H, Weirich G, Hausser I, Siegel C, Zernecke A, Eckstein HH.

Cardiovasc Pathol. 2013 Nov-Dec;22(6):488-92. doi: 10.1016/j.carpath.2013.04.003. Epub 2013 May 17.

PMID:
23688910
[PubMed - indexed for MEDLINE]
2.

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.

Eder J, Laccone F, Rohrbach M, Giunta C, Aumayr K, Reichel C, Trautinger F.

Exp Dermatol. 2013 Mar;22(3):231-4. doi: 10.1111/exd.12105.

PMID:
23489429
[PubMed - indexed for MEDLINE]
3.

Successful endovascular repair of acute type B aortic dissection in undiagnosed Ehlers-Danlos syndrome type IV.

Khalique Z, Lyons OT, Clough RE, Bell RE, Reidy JF, Schwarze U, Byers PH, Taylor PR.

Eur J Vasc Endovasc Surg. 2009 Nov;38(5):608-9. doi: 10.1016/j.ejvs.2009.07.009. Epub 2009 Aug 19.

PMID:
19695909
[PubMed - indexed for MEDLINE]
Free Article
4.

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

Yang JH, Lee ST, Kim JA, Kim SH, Jang SY, Ki CS, Kim DK.

J Korean Med Sci. 2007 Aug;22(4):698-705.

PMID:
17728513
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.

Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, Usui Y, Nagata M, Ohtake A, Hagiwara K, Kanazawa M.

Intern Med. 2010;49(16):1797-800. Epub 2010 Aug 13.

PMID:
20720362
[PubMed - indexed for MEDLINE]
Free Article
6.

The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience.

Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, Kalra M, Sullivan T, Gloviczki P.

J Vasc Surg. 2005 Jul;42(1):98-106.

PMID:
16012458
[PubMed - indexed for MEDLINE]
7.

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.

Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, Shinkai H, Sakai N, Shimada T, Hiroshima K, Kuriyama T.

Eur Respir J. 2002 Jan;19(1):195-8.

PMID:
11843319
[PubMed - indexed for MEDLINE]
Free Article
8.

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

PMID:
11577371
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome.

Smith LB, Hadoke PW, Dyer E, Denvir MA, Brownstein D, Miller E, Nelson N, Wells S, Cheeseman M, Greenfield A.

Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.

PMID:
21071432
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.

Lipinski MJ, Lipinski SE, Kripalani S, Friesen LD, Uthlaut BS, Braddock SR.

Am J Med Genet A. 2009 Feb 15;149A(4):698-701. doi: 10.1002/ajmg.a.32687.

PMID:
19248182
[PubMed - indexed for MEDLINE]
11.

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

Rebelo M, Ramos L, Lima J, Vieira JD, Tavares P, Teixeira L, Matos A, Costa JN.

Acta Med Port. 2011 Nov-Dec;24(6):1079-86. Epub 2012 Feb 20.

PMID:
22713205
[PubMed - indexed for MEDLINE]
Free Article
12.

Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome.

Dar RA, Wani SH, Mushtaque M, Kasana RA.

Gen Thorac Cardiovasc Surg. 2012 Sep;60(9):587-9. doi: 10.1007/s11748-012-0047-x. Epub 2012 May 19.

PMID:
22610159
[PubMed - indexed for MEDLINE]
13.

A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.

Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, Yamazaki S, Hatamochi A.

Arch Dermatol Res. 2010 Jul;302(5):395-9. doi: 10.1007/s00403-009-0970-6. Epub 2009 Jun 20.

PMID:
19543901
[PubMed - indexed for MEDLINE]
14.

[Genetic analysis in the clinical diagnosis of Ehlers-Danlos syndrome type IV].

Chen B, Guan YQ, Wu XL, Qi YX, Yu HX, Li JX, Zhang J.

Zhonghua Yi Xue Za Zhi. 2011 Apr 26;91(16):1122-4. Chinese.

PMID:
21609597
[PubMed - indexed for MEDLINE]
15.

[Vascular Ehlers-Danlos syndrome].

Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, Sapoval M, Julia P, Zinzindohoué F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, Fiessinger JN.

Presse Med. 2006 Dec;35(12 Pt 2):1864-75. Review. French.

PMID:
17159712
[PubMed - indexed for MEDLINE]
16.

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M.

J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. No abstract available. Erratum in: J Dermatol Sci. 2012 Jan;65(1):77.

PMID:
22019127
[PubMed - indexed for MEDLINE]
17.

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

Kroes HY, Pals G, van Essen AJ.

Clin Genet. 2003 Mar;63(3):224-7. Erratum in: Clin Genet. 2003 Oct;64(4):375.

PMID:
12694234
[PubMed - indexed for MEDLINE]
18.

Vascular Ehlers-Danlos syndrome: a case with fatal outcome.

Morais P, Mota A, Eloy C, Lopes JM, Torres F, Palmeiro A, Tavares P, Azevedo F.

Dermatol Online J. 2011 Apr 15;17(4):1.

PMID:
21549076
[PubMed - indexed for MEDLINE]
Free Article
19.

Vascular Ehlers-Danlos syndrome.

Germain DP, Herrera-Guzman Y.

Ann Genet. 2004 Jan-Mar;47(1):1-9. Review.

PMID:
15127738
[PubMed - indexed for MEDLINE]
20.

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, Shimada T.

Circ J. 2007 Feb;71(2):261-5.

PMID:
17251678
[PubMed - indexed for MEDLINE]
Free Article

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