BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 8986271)

  • 1. Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.
    Fujimoto A; Wilcox WR; Cohn DH
    Am J Med Genet; 1997 Jan; 68(1):25-8. PubMed ID: 8986271
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.
    Wertelecki W; Smith LT; Byers P
    J Pediatr; 1992 Oct; 121(4):558-64. PubMed ID: 1403389
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
    Malfait F; De Coster P; Hausser I; van Essen AJ; Franck P; Colige A; Nusgens B; Martens L; De Paepe A
    Am J Med Genet A; 2004 Nov; 131(1):18-28. PubMed ID: 15389701
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
    Petty EM; Seashore MR; Braverman IM; Spiesel SZ; Smith LT; Milstone LM
    Arch Dermatol; 1993 Oct; 129(10):1310-5. PubMed ID: 8215497
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
    Malfait F; Symoens S; Goemans N; Gyftodimou Y; Holmberg E; López-González V; Mortier G; Nampoothiri S; Petersen MB; De Paepe A
    Orphanet J Rare Dis; 2013 May; 8():78. PubMed ID: 23692737
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
    Smith LT; Wertelecki W; Milstone LM; Petty EM; Seashore MR; Braverman IM; Jenkins TG; Byers PH
    Am J Hum Genet; 1992 Aug; 51(2):235-44. PubMed ID: 1642226
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide.
    Holmes DF; Watson RB; Steinmann B; Kadler KE
    J Biol Chem; 1993 Jul; 268(21):15758-65. PubMed ID: 8340401
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
    Colige A; Sieron AL; Li SW; Schwarze U; Petty E; Wertelecki W; Wilcox W; Krakow D; Cohn DH; Reardon W; Byers PH; Lapière CM; Prockop DJ; Nusgens BV
    Am J Hum Genet; 1999 Aug; 65(2):308-17. PubMed ID: 10417273
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
    Colige A; Nuytinck L; Hausser I; van Essen AJ; Thiry M; Herens C; Adès LC; Malfait F; Paepe AD; Franck P; Wolff G; Oosterwijk JC; Smitt JH; Lapière CM; Nusgens BV
    J Invest Dermatol; 2004 Oct; 123(4):656-63. PubMed ID: 15373769
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
    Watson RB; Wallis GA; Holmes DF; Viljoen D; Byers PH; Kadler KE
    J Biol Chem; 1992 May; 267(13):9093-100. PubMed ID: 1577745
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
    Rohrbach M; Vandersteen A; Yiş U; Serdaroglu G; Ataman E; Chopra M; Garcia S; Jones K; Kariminejad A; Kraenzlin M; Marcelis C; Baumgartner M; Giunta C
    Orphanet J Rare Dis; 2011 Jun; 6():46. PubMed ID: 21699693
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth.
    Dyne KM; Vitellaro-Zuccarello L; Bacchella L; Lanzi G; Cetta G
    Br J Dermatol; 1993 Apr; 128(4):458-63. PubMed ID: 8494762
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
    Reardon W; Winter RM; Smith LT; Lake BD; Rossiter M; Baraitser M
    Clin Dysmorphol; 1995 Jan; 4(1):1-11. PubMed ID: 7735500
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.
    Bar-Yosef O; Polak-Charcon S; Hoffman C; Feldman ZP; Frydman M; Kuint J
    Am J Med Genet A; 2008 Dec; 146A(23):3054-7. PubMed ID: 18973246
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 8071956
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.
    Solomons J; Coucke P; Symoens S; Cohen MC; Pope FM; Wagner BE; Sobey G; Black R; Cilliers D
    Am J Med Genet A; 2013 May; 161A(5):1122-5. PubMed ID: 23495203
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structure of the dermis in type VIIC Ehlers-Danlos syndrome.
    Piérard GE; Hermanns-Lê T; Arrese-Estrada J; Piérard-Franchimont C; Lapière C
    Am J Dermatopathol; 1993 Apr; 15(2):127-32. PubMed ID: 8494112
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Electron microscopic and immunohistological studies of a case of Ehlers-Danlos syndrome type IV].
    Matsuta M; Akasaka T; Kon S; Suzuki Z
    Nihon Hifuka Gakkai Zasshi; 1989 Apr; 99(5):601-7. PubMed ID: 2585774
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Ehlers-Danlos syndrome: an analysis of the structure of the collagen fibres of the skin.
    Black CM; Gathercole LJ; Bailey AJ; Beighton P
    Br J Dermatol; 1980 Jan; 102(1):85-96. PubMed ID: 7378285
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
    Byers PH; Duvic M; Atkinson M; Robinow M; Smith LT; Krane SM; Greally MT; Ludman M; Matalon R; Pauker S; Quanbeck D; Schwarze U
    Am J Med Genet; 1997 Oct; 72(1):94-105. PubMed ID: 9295084
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.