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Journal Abstract Search

344 related items for PubMed ID: 28183226

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  • 3. 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; 52(2):138-142. PubMed ID: 29216800
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  • 4. 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; 71(1):149-157. PubMed ID: 31353273
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  • 5. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
    Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers IC, Dooijes D, Vonken EP, van der Smagt JJ, Knoers NV, Koenen SV, van Herwaarden JA, Sieswerda GT.
    Am J Med Genet A; 2017 Feb; 173(2):519-523. PubMed ID: 28102592
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  • 6. 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; 12(1):1119-24. PubMed ID: 25776230
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  • 7. 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. PubMed ID: 11577371
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  • 8. A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome.
    Olson SL, Murray ML, Skeik N.
    Ann Vasc Surg; 2019 Nov; 61():472.e9-472.e13. PubMed ID: 31394236
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  • 9. [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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  • 10. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
    Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS.
    Genet Med; 2019 Sep 26; 21(9):2081-2091. PubMed ID: 30837697
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  • 11. 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
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  • 12. Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?
    Utama S, Cale JM, Mitrpant C, Fletcher S, Wilton SD, Aung-Htut MT.
    Int J Mol Sci; 2024 Aug 13; 25(16):. PubMed ID: 39201504
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  • 15. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
    Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Behrendt CA, Debus ES, von Kodolitsch Y, Powell RJ, Pepin M, Milewicz DM, Lawrence PF, Woo K.
    J Vasc Surg; 2019 Nov 13; 70(5):1543-1554. PubMed ID: 31126764
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  • 17. 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 13; 64(3):237-40. PubMed ID: 22019127
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  • 20. Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene.
    Manhas A, Tripathi D, Noishiki C, Wu D, Liu L, Sallam K, Lee JT, Fukaya E, Sayed N.
    Stem Cell Res; 2024 Sep 13; 79():103485. PubMed ID: 38944978
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