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    Results: 1 to 20 of 102

    1.

    Editorial notes: Molecular defects in collagen.

    McKusick VA.

    Ann Intern Med. 1975 Apr;82(4):585-6. No abstract available. PMID: 1119776 [PubMed - indexed for MEDLINE]Related articles

    2.

    [Hereditary deficiency in the enzymes of the biosynthesis of collagen. The Ehlers-Danlos syndromes (author's transl)]

    Gajdos A.

    Nouv Presse Med. 1977 Oct 15;6(34):3101-5. Review. French. PMID: 21384 [PubMed - indexed for MEDLINE]Related articles

    3.

    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.PMID: 1184396 [PubMed - indexed for MEDLINE]Related articles

    4.

    Abnormal collagens in connective tissue diseases.

    Pinnell SR.

    Birth Defects Orig Artic Ser. 1975;11(6):23-30. Review. No abstract available. PMID: 1103994 [PubMed - indexed for MEDLINE]Related articles

    5.

    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.PMID: 4373475 [PubMed - indexed for MEDLINE]Related articles

    6.

    Ehlers-Danlos type V (X-linked form): a lysyl oxidase deficiency.

    Di Ferrante N, Leachman RD, Angelini P, Donnelly PV, Francis G, Almazan A, Segni G, Franzblau C, Jordan RE.

    Birth Defects Orig Artic Ser. 1975;11(6):31-7. No abstract available. PMID: 101 [PubMed - indexed for MEDLINE]Related articles

    7.

    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.PMID: 2504907 [PubMed - indexed for MEDLINE]Related articles

    8.

    Collagen biosynthesis and isomorphism in a case of Ehlers-Danlos syndrome type VI.

    Chamson A, Berbis P, Fabre JF, Privat Y, Frey J.

    Arch Dermatol Res. 1987;279(5):303-7.PMID: 3115194 [PubMed - indexed for MEDLINE]Related articles

    9.

    Biochemical changes in the skin of mink with Ehlers-Danlos syndrome: increased collagen biosynthesis in the dermis of affected mink.

    Counts DF, Knighten P, Hegreberg G.

    J Invest Dermatol. 1977 Dec;69(6):521-6. No abstract available. PMID: 21930 [PubMed - indexed for MEDLINE]Related articles

    10.

    Molecular defects in the Ehlers-Danlos syndrome.

    Pinnell SR.

    J Invest Dermatol. 1982 Jul;79 Suppl 1:90s-92s.PMID: 7086195 [PubMed - indexed for MEDLINE]Related articles

    11.

    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.PMID: 6089551 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    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 31;96(4):1778-84. No abstract available. PMID: 6778480 [PubMed - indexed for MEDLINE]Related articles

    13.

    Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.

    Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA.

    Science. 1973 Oct 19;182(109):298-300.PMID: 4742738 [PubMed - indexed for MEDLINE]Related articles

    14.

    The molecular basis of connective tissue pathology.

    Lapiere CH.

    Br J Dermatol. 1973 Jul;89(1):87-91. Review. No abstract available. PMID: 4366519 [PubMed - indexed for MEDLINE]Related articles

    15.

    The Ehlers-Danlos syndromes.

    Yeowell HN, Pinnell SR.

    Semin Dermatol. 1993 Sep;12(3):229-40. Review.PMID: 8217561 [PubMed - indexed for MEDLINE]Related articles

    16.

    Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI.

    Dembure PP, Janko AR, Priest JH, Elsas LJ.

    Metabolism. 1987 Jul;36(7):687-91.PMID: 3110540 [PubMed - indexed for MEDLINE]Related articles

    17.

    The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.

    Eyre D, Shao P, Weis MA, Steinmann B.

    Mol Genet Metab. 2002 Jul;76(3):211-6.PMID: 12126935 [PubMed - indexed for MEDLINE]Related articles

    18.

    Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

    Kuivaniemi H, Peltonen L, Palotie A, Kaitila I, Kivirikko KI.

    J Clin Invest. 1982 Mar;69(3):730-3.PMID: 6120954 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

    Carr AJ, Chiodo AA, Hilton JM, Chow CW, Hockey A, Cole WG.

    J Med Genet. 1994 Apr;31(4):306-11.PMID: 8071956 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    A [3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase.

    Glass DB, Dembure PP, Priest JH, Elsas LJ 2nd.

    Biochim Biophys Acta. 1985 Jun 18;840(2):143-52.PMID: 3922429 [PubMed - indexed for MEDLINE]Related articles

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