These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 962660)

  • 1. Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.
    Judisch GF; Waziri M; Krachmer JH
    Arch Ophthalmol; 1976 Sep; 94(9):1489-91. PubMed ID: 962660
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.
    Dembure PP; Priest JH; Snoddy SC; Elsas LJ
    Am J Hum Genet; 1984 Jul; 36(4):783-90. PubMed ID: 6089551
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 116(4):602-5. PubMed ID: 11286629
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 30(3):255-74. PubMed ID: 1184396
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI.
    Ihme A; Risteli L; Krieg T; Risteli J; Feldmann U; Kruse K; Müller PK
    Eur J Clin Invest; 1983 Aug; 13(4):357-62. PubMed ID: 6413223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid.
    Royce PM; Moser U; Steinmann B
    Matrix; 1989 Mar; 9(2):147-9. PubMed ID: 2498625
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.
    Sussman M; Lichtenstein JR; Nigra TP; Martin GR; McKusick VA
    J Bone Joint Surg Am; 1974 Sep; 56(6):1228-34. PubMed ID: 4373475
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.
    Royce PM; Steinmann B; Vogel A; Steinhorst U; Kohlschuetter A
    Eur J Pediatr; 1990 Apr; 149(7):465-9. PubMed ID: 2112090
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Preferential hydroxylation of type IV collagen by lysyl hydroxylase from Ehlers-Danlos syndrome type VI fibroblasts.
    Risteli L; Risteli J; Ihme A; Krieg T; Müller PK
    Biochem Biophys Res Commun; 1980 Oct; 96(4):1778-84. PubMed ID: 6778480
    [No Abstract]   [Full Text] [Related]  

  • 10. Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
    Wenstrup RJ; Murad S; Pinnell SR
    J Pediatr; 1989 Sep; 115(3):405-9. PubMed ID: 2504907
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
    Al-Hussain H; Zeisberger SM; Huber PR; Giunta C; Steinmann B
    Am J Med Genet A; 2004 Jan; 124A(1):28-34. PubMed ID: 14679583
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen.
    Quinn RS; Krane SM
    J Clin Invest; 1976 Jan; 57(1):83-93. PubMed ID: 173744
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.
    Pajunen L; Suokas M; Hautala T; Kellokumpu S; Tebbe B; Kivirikko KI; Myllylä R
    DNA Cell Biol; 1998 Feb; 17(2):117-23. PubMed ID: 9502428
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 71(1-2):212-24. PubMed ID: 11001813
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
    Heikkinen J; Hautala T; Kivirikko KI; Myllylä R
    Genomics; 1994 Dec; 24(3):464-71. PubMed ID: 7713497
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Human lysyl hydroxylase: purification to homogeneity, partial characterization and comparison of catalytic properties with those of a mutant enzyme from Ehlers-Danlos syndrome type VI fibroblasts.
    Turpeenniemi-Hujanen TM; Puistola U; Kivirikko KI
    Coll Relat Res; 1981 Jul; 1(4):355-66. PubMed ID: 6809411
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Hereditary deficiency in the enzymes of the biosynthesis of collagen. The Ehlers-Danlos syndromes (author's transl)].
    Gajdos A
    Nouv Presse Med; 1977 Oct; 6(34):3101-5. PubMed ID: 21384
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 321(2):510-6. PubMed ID: 7646078
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.