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 *

113 related articles for article (PubMed ID: 8129411)

  • 1. X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse.
    Emami S; Hanley KP; Esterly NB; Daniallinia N; Williams ML
    Arch Dermatol; 1994 Mar; 130(3):325-36. PubMed ID: 8129411
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.
    Emami S; Rizzo WB; Hanley KP; Taylor JM; Goldyne ME; Williams ML
    Arch Dermatol; 1992 Sep; 128(9):1213-22. PubMed ID: 1519936
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
    Clayton PT; Kalter DC; Atherton DJ; Besley GT; Broadhead DM
    J Inherit Metab Dis; 1989; 12 Suppl 2():358-60. PubMed ID: 2512444
    [No Abstract]   [Full Text] [Related]  

  • 4. X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.
    Sato M; Ishikawa O; Miyachi Y
    Dermatology; 1996; 192(1):23-7. PubMed ID: 8832947
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.
    Espeel M; Heikoop JC; Smeitink JA; Beemer FA; De Craemer D; Van den Berg M; Hashimoto T; Wanders RJ; Schutgens RB; Poll-The BT
    Ultrastruct Pathol; 1993; 17(6):623-36. PubMed ID: 8122328
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Normal peroxisomal function and absent skeletal manifestations in Conradi-Hünermann syndrome.
    Prendiville JS; Zaparackas ZG; Esterly NB
    Arch Dermatol; 1991 Apr; 127(4):539-42. PubMed ID: 2006879
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).
    Hoang MP; Carder KR; Pandya AG; Bennett MJ
    Am J Dermatopathol; 2004 Feb; 26(1):53-8. PubMed ID: 14726822
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cutaneous histopathology of Conradi-Hunermann syndrome.
    Hamaguchi T; Bondar G; Siegfried E; Penneys NS
    J Cutan Pathol; 1995 Feb; 22(1):38-41. PubMed ID: 7751477
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
    Wilson CJ; Aftimos S
    Am J Med Genet; 1998 Jul; 78(3):300-2. PubMed ID: 9677071
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lethal chondrodysplasia punctata, Conradi Hünermann subtype A, one case.
    Gaulier A; Chastagner C; Leloc'h H; Babin C
    Pathol Res Pract; 1987 Feb; 182(1):72-9. PubMed ID: 3588407
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.
    Hughes JL; Poulos A; Crane DI; Chow CW; Sheffield LJ; Sillence D
    Eur J Pediatr; 1992 Nov; 151(11):829-36. PubMed ID: 1468458
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
    Heikoop JC; Van den Berg M; Strijland A; Weijers PJ; Schutgens RB; Just WW; Wanders RJ; Tager JM
    Biochim Biophys Acta; 1991 Jul; 1097(1):62-70. PubMed ID: 1677591
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
    Barr DG; Kirk JM; al Howasi M; Wanders RJ; Schutgens RB
    Arch Dis Child; 1993 Mar; 68(3):415-7. PubMed ID: 8466247
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
    Derry JM; Gormally E; Means GD; Zhao W; Meindl A; Kelley RI; Boyd Y; Herman GE
    Nat Genet; 1999 Jul; 22(3):286-90. PubMed ID: 10391218
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
    Kolb-Mäurer A; Grzeschik KH; Haas D; Bröcker EB; Hamm H
    Acta Derm Venereol; 2008; 88(1):47-51. PubMed ID: 18176751
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
    Omobono E; Goetsch W
    Minerva Pediatr; 1993 Mar; 45(3):117-21. PubMed ID: 8341225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
    Cañueto J; Girós M; González-Sarmiento R
    Biochim Biophys Acta; 2014 Mar; 1841(3):336-44. PubMed ID: 24036494
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders.
    Biermann J; Gootjes J; Humbel BM; Dansen TB; Wanders RJ; van den Bosch H
    Eur J Cell Biol; 1999 May; 78(5):339-48. PubMed ID: 10384985
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.
    Balfe A; Hoefler G; Chen WW; Watkins PA
    Pediatr Res; 1990 Mar; 27(3):304-10. PubMed ID: 2181395
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.
    Poll-The BT; Maroteaux P; Narcy C; Quetin P; Guesnu M; Wanders RJ; Schutgens RB; Saudubray JM
    J Inherit Metab Dis; 1991; 14(3):361-3. PubMed ID: 1770792
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.