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Journal Abstract Search

320 related items for PubMed ID: 29024828

  • 1. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.
    Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M.
    Eur J Med Genet; 2018 Jan; 61(1):17-20. PubMed ID: 29024828
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  • 9. Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.
    Chiu WC, Chen SH, Lo MC, Kuo YT.
    BMC Pediatr; 2020 Oct 27; 20(1):495. PubMed ID: 33109150
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  • 10. Molecular genetics in classic Ehlers-Danlos syndrome.
    Malfait F, De Paepe A.
    Am J Med Genet C Semin Med Genet; 2005 Nov 15; 139C(1):17-23. PubMed ID: 16278879
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  • 11. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
    Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, Horne SG, Vandersteen A.
    Eur J Med Genet; 2020 Feb 15; 63(2):103730. PubMed ID: 31323331
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  • 13. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
    Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.
    Am J Med Genet A; 2015 Jun 15; 167(6):1196-203. PubMed ID: 25845371
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  • 18. Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
    Ma N, Zhu Z, Liu J, Peng Y, Zhao X, Tang W, Jia Z, Xi H, Gao B, Wang H, Du J.
    Mol Genet Genomic Med; 2021 May 15; 9(5):e1632. PubMed ID: 33834621
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  • 19. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
    Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M.
    Am J Med Genet A; 2017 Feb 15; 173(2):524-530. PubMed ID: 28102596
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