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Journal Abstract Search

347 related items for PubMed ID: 21549076

  • 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. PubMed ID: 21549076
    [Abstract] [Full Text] [Related]

  • 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 15; 302(5):395-9. PubMed ID: 19543901
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 163(4):704-10. PubMed ID: 20518783
    [Abstract] [Full Text] [Related]

  • 4. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
    Beridze N, Frishman WH.
    Cardiol Rev; 2012 Oct 15; 20(1):4-7. PubMed ID: 22143279
    [Abstract] [Full Text] [Related]

  • 5. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
    Shalhub S, Byers PH, Hicks KL, Coleman DM, Davis FM, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Charlton-Ouw K, Behrendt CA, Debus ES, von Kodolitsch Y, Zarkowsky D, Powell RJ, Pepin M, Milewicz DM, Regalado ES, Lawrence PF, Woo K.
    J Vasc Surg; 2020 Jan 15; 71(1):149-157. PubMed ID: 31353273
    [Abstract] [Full Text] [Related]

  • 6. 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 Jan 15; 91 Suppl 1():S166-71. PubMed ID: 18672610
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 22(3):231-4. PubMed ID: 23489429
    [Abstract] [Full Text] [Related]

  • 8. 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. PubMed ID: 21219851
    [Abstract] [Full Text] [Related]

  • 9. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
    Gu G, Yang H, Cui L, Fu Y, Li F, Zhou Z, Zheng Y.
    Vasc Endovascular Surg; 2018 Feb 18; 52(2):138-142. PubMed ID: 29216800
    [Abstract] [Full Text] [Related]

  • 10. 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 Feb 18; 24(6):1079-86. PubMed ID: 22713205
    [Abstract] [Full Text] [Related]

  • 11. A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations.
    Demirogullari B, Karabulut R, Demirtola A, Karabulut B, Gol IH, Aybay C, Symoens S, Sonmez K, Basaklar AC, Kale N.
    J Pediatr Surg; 2006 Aug 18; 41(8):e27-30. PubMed ID: 16863833
    [Abstract] [Full Text] [Related]

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  • 13. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.
    Deng Y, Wei S, Hu S, Chen J, Tan Z, Yang Y.
    Mol Med Rep; 2015 Jul 18; 12(1):1119-24. PubMed ID: 25776230
    [Abstract] [Full Text] [Related]

  • 14. Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies.
    Moore MM, Votava JM, Orlow SJ, Schaffer JV.
    J Am Acad Dermatol; 2006 Aug 18; 55(2 Suppl):S41-5. PubMed ID: 16843123
    [Abstract] [Full Text] [Related]

  • 15. Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type IV.
    Dohle C, Baehring JM.
    J Neurol Sci; 2012 Jul 15; 318(1-2):168-70. PubMed ID: 22559935
    [Abstract] [Full Text] [Related]

  • 16. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
    Okamoto O, Ando T, Watanabe A, Sato F, Mimata H, Shimada T, Fujiwara S.
    Arch Dermatol Res; 2008 Oct 15; 300(9):525-9. PubMed ID: 18779970
    [Abstract] [Full Text] [Related]

  • 17. [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. PubMed ID: 21609597
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  • 19. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.
    Wan T, Ye J, Wu P, Cheng M, Jiang B, Wang H, Li J, Ma J, Wang L, Huang X.
    BMC Pulm Med; 2020 May 29; 20(1):149. PubMed ID: 32471395
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