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Journal Abstract Search

185 related items for PubMed ID: 22121851

  • 1. 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; 166(4):830-8. PubMed ID: 22121851
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  • 2. 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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  • 3. Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
    Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ, Castelijns FC, Willemsen M, van Steensel MA.
    Br J Dermatol; 2007 Dec; 157(6):1225-9. PubMed ID: 17949453
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  • 4. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome.
    Shotelersuk V, Tongkobpetch S.
    Clin Exp Dermatol; 2005 Jul; 30(4):419-21. PubMed ID: 15953085
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  • 5. 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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  • 9. 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 Sep; 88(1):47-51. PubMed ID: 18176751
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  • 10. Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
    Hellenbroich Y, Grzeschik KH, Krapp M, Jarutat T, Lehrmann-Petersen C, Buiting K, Gillessen-Kaesbach G.
    Eur J Med Genet; 2007 Sep; 50(5):392-8. PubMed ID: 17625999
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  • 15. High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
    Umekoji A, Fukai K, Kasama T, Yokoi T, Saito M, Tsuruhara A, Ishii M.
    J Dermatol Sci; 2008 Jul; 51(1):62-5. PubMed ID: 18387283
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  • 16. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
    Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E.
    Am J Med Genet A; 2014 Apr; 164A(4):907-14. PubMed ID: 24459067
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  • 19. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
    Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA.
    Pediatr Dermatol; 2014 Apr; 31(4):493-6. PubMed ID: 24915996
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