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Journal Abstract Search

170 related items for PubMed ID: 14726822

  • 1. 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
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  • 2. Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
    Leclerc-Mercier S, Dufernez F, Fraitag S, Coulombe J, Dompmartin A, Barreau M, Bozon D, Lamazière A, Bonnefont JP, Khalifa E, Bodemer C, Hadj-Rabia S.
    Br J Dermatol; 2015 Nov; 173(5):1316-8. PubMed ID: 26075358
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  • 3. 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
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  • 4. 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 Mar; 88(1):47-51. PubMed ID: 18176751
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  • 5. 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
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  • 6. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
    Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC.
    Am J Med Genet A; 2015 Jun; 167(6):1309-14. PubMed ID: 25846959
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  • 8. Usefulness of histopathologic examination of thick scales in the diagnosis of X-linked dominant chondrodysplasia punctata (Happle).
    Yanagihara M, Ueda K, Asano N, Ozawa T, Nakatani A, Hirose M.
    Pediatr Dermatol; 1996 Jun; 13(1):1-4. PubMed ID: 8919514
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  • 12. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
    Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D.
    Arch Dermatol; 2011 Sep; 147(9):1073-6. PubMed ID: 21931045
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  • 14. Ultrastructural aspects of chondrodystrophia calcificans congenita (syndrome of Conradi-Hünermann).
    Bosman C, Bonucci E, Gugliantini P, Saguì L.
    Virchows Arch A Pathol Anat Histol; 1977 Feb 18; 373(1):23-35. PubMed ID: 139022
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  • 17. [Happle-type Conradi-Hünerman syndrome. A sporadic case].
    Hervé A, Maroteaux P, Denoix C, Wechsler J, Poli F, Revuz J.
    Ann Dermatol Venereol; 1991 Feb 18; 118(11):790-1. PubMed ID: 1789632
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  • 18. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
    Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.
    Br J Dermatol; 2012 Apr 18; 166(4):830-8. PubMed ID: 22121851
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