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Pubmed for Handhelds

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Journal Abstract Search

116 related items for PubMed ID: 20691685

  • 21. Genetic defects in proteoglycan biosynthesis.
    Quentin-Hoffmann E, Harrach B, Robenek H, Kresse H.
    Padiatr Padol; 1993; 28(1):37-41. PubMed ID: 8446427
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  • 22. Glycan profiling of a defect in decorin glycosylation in equine systemic proteoglycan accumulation, a potential model of progeroid form of Ehlers-Danlos syndrome.
    Kim B, Yoon JH, Zhang J, Eric Mueller PO, Halper J.
    Arch Biochem Biophys; 2010 Sep 15; 501(2):221-31. PubMed ID: 20599673
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  • 23. The clinical presentation of Ehlers-Danlos syndrome.
    Lawrence EJ.
    Adv Neonatal Care; 2005 Dec 15; 5(6):301-14. PubMed ID: 16338669
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  • 24. Identification of a Drosophila gene encoding xylosylprotein beta4-galactosyltransferase that is essential for the synthesis of glycosaminoglycans and for morphogenesis.
    Nakamura Y, Haines N, Chen J, Okajima T, Furukawa K, Urano T, Stanley P, Irvine KD, Furukawa K.
    J Biol Chem; 2002 Nov 29; 277(48):46280-8. PubMed ID: 12215432
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  • 25. Exploration of the active site of β4GalT7: modifications of the aglycon of aromatic xylosides.
    Siegbahn A, Thorsheim K, Ståhle J, Manner S, Hamark C, Persson A, Tykesson E, Mani K, Westergren-Thorsson G, Widmalm G, Ellervik U.
    Org Biomol Chem; 2015 Mar 21; 13(11):3351-62. PubMed ID: 25655827
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  • 29. Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.
    Zweers MC, Dean WB, van Kuppevelt TH, Bristow J, Schalkwijk J.
    Clin Genet; 2005 Apr 21; 67(4):330-4. PubMed ID: 15733269
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  • 30. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
    Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.
    Hum Mutat; 2005 Jan 21; 25(1):28-37. PubMed ID: 15580559
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  • 31. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
    Yeowell HN, Walker LC, Farmer B, Heikkinen J, Myllyla R.
    Hum Mutat; 2000 Jul 21; 16(1):90. PubMed ID: 10874315
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  • 32. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.
    Mao JR, Taylor G, Dean WB, Wagner DR, Afzal V, Lotz JC, Rubin EM, Bristow J.
    Nat Genet; 2002 Apr 21; 30(4):421-5. PubMed ID: 11925569
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  • 33. 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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  • 35. [Ehlers-Danlos syndrome type I. Ultrastructural study].
    Paradisi M, Giubilei L, Canzona F, Angelo C, Onetti Muda A, Puddu P.
    Minerva Pediatr; 1997 May 15; 49(5):215-9. PubMed ID: 9340484
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  • 36. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
    Toriello HV, Glover TW, Takahara K, Byers PH, Miller DE, Higgins JV, Greenspan DS.
    Nat Genet; 1996 Jul 15; 13(3):361-5. PubMed ID: 8673139
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