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Results: 1 to 20 of 170

1.

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
2.

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]
3.

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]
4.

Clinical and genetic features of vascular Ehlers-Danlos syndrome.

Germain DP.

Ann Vasc Surg. 2002 May;16(3):391-7. Epub 2002 May 21. Review.

PMID:
12016538
[PubMed - indexed for MEDLINE]
5.

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
6.

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
7.

Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections.

Nakamura M, Yajima J, Oikawa Y, Ogasawara K, Uejima T, Abe K, Aizawa T.

J Cardiol. 2009 Jun;53(3):458-62. doi: 10.1016/j.jjcc.2008.09.007. Epub 2008 Nov 8.

PMID:
19477391
[PubMed - indexed for MEDLINE]
Free Article
8.

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A.

Br J Dermatol. 2010 Oct;163(4):704-10. doi: 10.1111/j.1365-2133.2010.09874.x.

PMID:
20518783
[PubMed - indexed for MEDLINE]
9.

Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV.

Collins MH, Schwarze U, Carpentieri DF, Kaplan P, Nathanson K, Meyer JS, Byers PH.

Pediatr Dev Pathol. 1999 Jan-Feb;2(1):86-93.

PMID:
9841712
[PubMed - indexed for MEDLINE]
10.

Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.

Beridze N, Frishman WH.

Cardiol Rev. 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. Review.

PMID:
22143279
[PubMed - indexed for MEDLINE]
11.

Ehlers-Danlos syndrome type IV with gastric adenocarcinoma.

Kanechorn Na Ayuthaya R, Patthamapasphong N, Sura T, Niumpradit N, Trachoo O.

J Med Assoc Thai. 2008;91 Suppl 1:S166-71.

PMID:
18672610
[PubMed - indexed for MEDLINE]
12.

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

Carr AJ, Chiodo AA, Hilton JM, Chow CW, Hockey A, Cole WG.

J Med Genet. 1994 Apr;31(4):306-11.

PMID:
8071956
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
14.

Vascular type of Ehlers-Danlos syndrome.

Watanabe A, Shimada T.

J Nippon Med Sch. 2008 Oct;75(5):254-61. Review.

PMID:
19023163
[PubMed - indexed for MEDLINE]
Free Article
15.

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]
16.

A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.

Naing BT, Watanabe A, Shimada T.

Biochem Biophys Res Commun. 2011 Feb 18;405(3):368-72. doi: 10.1016/j.bbrc.2011.01.011. Epub 2011 Jan 8.

PMID:
21219851
[PubMed - indexed for MEDLINE]
17.

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C.

Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541.

PMID:
20635400
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
16928994
[PubMed - indexed for MEDLINE]
Free Article
19.

Ehlers-Danlos syndrome type IV.

Germain DP.

Orphanet J Rare Dis. 2007 Jul 19;2:32. Review.

PMID:
17640391
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome.

van Bon AC, Kristinsson JO, van Krieken JH, Wanten GJ.

Ann Vasc Surg. 2009 Mar;23(2):256.e1-4. doi: 10.1016/j.avsg.2008.02.004. Epub 2008 Sep 19.

PMID:
18804950
[PubMed - indexed for MEDLINE]

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