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PUBMED FOR HANDHELDS

Journal Abstract Search

150 related items for PubMed ID: 9989335

  • 1. Heritable collagen disorders: from phenotype to genotype.
    De Paepe A.
    Verh K Acad Geneeskd Belg; 1998; 60(5):463-82; discussion 482-4. PubMed ID: 9989335
    [Abstract] [Full Text] [Related]

  • 2. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
    Gajko-Galicka A.
    Acta Biochim Pol; 2002; 49(2):433-41. PubMed ID: 12362985
    [Abstract] [Full Text] [Related]

  • 3. Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
    Ward LM, Lalic L, Roughley PJ, Glorieux FH.
    Hum Mutat; 2001 May; 17(5):434. PubMed ID: 11317364
    [Abstract] [Full Text] [Related]

  • 4. Ehlers-Danlos syndromes and Marfan syndrome.
    Callewaert B, Malfait F, Loeys B, De Paepe A.
    Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):165-89. PubMed ID: 18328988
    [Abstract] [Full Text] [Related]

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  • 6. Inherited disorders of collagen gene structure and expression.
    Byers PH.
    Am J Med Genet; 1989 Sep; 34(1):72-80. PubMed ID: 2683783
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  • 8. The Ehlers-Danlos syndromes.
    Yeowell HN, Pinnell SR.
    Semin Dermatol; 1993 Sep; 12(3):229-40. PubMed ID: 8217561
    [Abstract] [Full Text] [Related]

  • 9. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
    De Paepe A, Malfait F.
    Br J Haematol; 2004 Dec; 127(5):491-500. PubMed ID: 15566352
    [Abstract] [Full Text] [Related]

  • 10. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
    Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.
    Hum Mutat; 2006 Jun; 27(6):599. PubMed ID: 16705691
    [Abstract] [Full Text] [Related]

  • 11. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
    Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.
    Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
    [Abstract] [Full Text] [Related]

  • 12. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
    Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B.
    Am J Med Genet; 2002 May 15; 109(4):284-90. PubMed ID: 11992482
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
    Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, Dalton A.
    Hum Mutat; 2006 Jul 15; 27(7):716. PubMed ID: 16786509
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 25(1):28-37. PubMed ID: 15580559
    [Abstract] [Full Text] [Related]

  • 16. [Vascular Ehlers-Danlos syndromes--biochemical and molecular-genetic investigations].
    Lund AM.
    Ugeskr Laeger; 2006 Feb 27; 168(9):915-20. PubMed ID: 16513057
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
    Yeowell HN, Walker LC.
    Mol Genet Metab; 2000 Nov 15; 71(1-2):212-24. PubMed ID: 11001813
    [Abstract] [Full Text] [Related]

  • 19. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 20. Osteogenesis imperfecta: prospects for molecular therapeutics.
    Forlino A, Marini JC.
    Mol Genet Metab; 2000 Aug 15; 71(1-2):225-32. PubMed ID: 11001814
    [Abstract] [Full Text] [Related]

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