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Journal Abstract Search

215 related items for PubMed ID: 1345174

  • 1. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
    Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R.
    Nat Genet; 1992 Nov; 2(3):228-31. PubMed ID: 1345174
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  • 2. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.
    Hautala T, Heikkinen J, Kivirikko KI, Myllylä R.
    Genomics; 1993 Feb; 15(2):399-404. PubMed ID: 8449506
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  • 3. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
    Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN.
    Mol Genet Metab; 1999 May; 67(1):74-82. PubMed ID: 10329027
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  • 5. 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 May; 71(1-2):212-24. PubMed ID: 11001813
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  • 7. A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.
    Yeowell HN, Walker LC, Murad S, Pinnell SR.
    Arch Biochem Biophys; 1997 Nov 01; 347(1):126-31. PubMed ID: 9344473
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  • 10. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
    Giunta C, Randolph A, Steinmann B.
    Mol Genet Metab; 2005 Nov 01; 86(1-2):269-76. PubMed ID: 15979919
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  • 11. The mRNA and the activity of lysyl hydroxylase are up-regulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type VI.
    Yeowell HN, Walker LC, Marshall MK, Murad S, Pinnell SR.
    Arch Biochem Biophys; 1995 Aug 20; 321(2):510-6. PubMed ID: 7646078
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  • 15. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
    Pousi B, Hautala T, Hyland JC, Schröter J, Eckes B, Kivirikko KI, Myllylä R.
    Hum Mutat; 1998 Aug 20; 11(1):55-61. PubMed ID: 9450904
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  • 16. Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.
    Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CH.
    Helv Paediatr Acta; 1975 Oct 20; 30(3):255-74. PubMed ID: 1184396
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  • 17. Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome.
    Rauma T, Kumpumäki S, Anderson R, Davidson BL, Ruotsalainen H, Myllylä R, Hautala T.
    J Invest Dermatol; 2001 Apr 20; 116(4):602-5. PubMed ID: 11286629
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  • 18. A case of Ehlers Danlos syndrome type VI.
    Salavoura K, Valari M, Kolialexi A, Mavrou A, Kitsiou S.
    Genet Couns; 2006 Apr 20; 17(3):291-4. PubMed ID: 17100196
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