BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 10329027)

  • 21. 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]  

  • 22. 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]  

  • 23. Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.
    Yeowell HN; Walker LC
    Proc Assoc Am Physicians; 1999; 111(1):57-62. PubMed ID: 9893157
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).
    Brinckmann J; Açil Y; Feshchenko S; Katzer E; Brenner R; Kulozik A; Kügler S
    Arch Dermatol Res; 1998 Apr; 290(4):181-6. PubMed ID: 9617436
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
    Okamoto O; Ando T; Watanabe A; Sato F; Mimata H; Shimada T; Fujiwara S
    Arch Dermatol Res; 2008 Oct; 300(9):525-9. PubMed ID: 18779970
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The Ehlers-Danlos syndromes.
    Yeowell HN; Pinnell SR
    Semin Dermatol; 1993 Sep; 12(3):229-40. PubMed ID: 8217561
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
    Heikkinen J; Toppinen T; Yeowell H; Krieg T; Steinmann B; Kivirikko KI; Myllylä R
    Am J Hum Genet; 1997 Jan; 60(1):48-56. PubMed ID: 8981946
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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; 13(3):361-5. PubMed ID: 8673139
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI.
    Pousi B; Heikkinen J; Schröter J; Pope M; Myllylä R
    Mutat Res; 2000 Feb; 432(1-2):33-7. PubMed ID: 10729709
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
    Walker LC; Overstreet MA; Willing MC; Marini JC; Cabral WA; Pals G; Bristow J; Atsawasuwan P; Yamauchi M; Yeowell HN
    Am J Med Genet A; 2004 Dec; 131(2):155-62. PubMed ID: 15523625
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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; 109(4):284-90. PubMed ID: 11992482
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 25(1):28-37. PubMed ID: 15580559
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
    Schalkwijk J; Zweers MC; Steijlen PM; Dean WB; Taylor G; van Vlijmen IM; van Haren B; Miller WL; Bristow J
    N Engl J Med; 2001 Oct; 345(16):1167-75. PubMed ID: 11642233
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.
    Wu Y; Kuivaniemi H; Tromp G; Strobel D; Romanic AM; Prockop DJ
    Hum Mutat; 1993; 2(1):28-36. PubMed ID: 8477261
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
    Nuytinck L; De Paepe A; Renard JP; Adriaens F; Leroy J
    Hum Mutat; 1994; 3(3):268-74. PubMed ID: 8019562
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
    Tosun A; Kurtgoz S; Dursun S; Bozkurt G
    Pediatr Neurol; 2014 Oct; 51(4):566-9. PubMed ID: 25266621
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
    Okita H; Ikeda Y; Mitsuhashi Y; Namikawa H; Kitamura Y; Hamasaki Y; Yamazaki S; Hatamochi A
    Arch Dermatol Res; 2010 Jul; 302(5):395-9. PubMed ID: 19543901
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
    Pousi B; Hautala T; Heikkinen J; Pajunen L; Kivirikko KI; Myllylä R
    Am J Hum Genet; 1994 Nov; 55(5):899-906. PubMed ID: 7977351
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.