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Journal Abstract Search

327 related items for PubMed ID: 15106076

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  • 2. 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
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  • 5. Conradi-Hünermann-Happle syndrome.
    Hartman RD, Molho-Pessach V, Schaffer JV.
    Dermatol Online J; 2010 Nov 15; 16(11):4. PubMed ID: 21163155
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  • 8. [X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].
    Tronnier M, Froster-Iskenius UG, Schmeller W, Happle R, Wolff HH.
    Hautarzt; 1992 Apr 15; 43(4):221-5. PubMed ID: 1597371
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  • 11. 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 15; 31(4):493-6. PubMed ID: 24915996
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  • 13. 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 15; 157(6):1225-9. PubMed ID: 17949453
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  • 15. 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 15; 26(1):53-8. PubMed ID: 14726822
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  • 16. 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 Feb 15; 50(5):392-8. PubMed ID: 17625999
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  • 18. 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 15; 22(3):286-90. PubMed ID: 10391218
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  • 19. [X-chromosome dominant chondrodysplasia punctata (Happle syndrome). Lyonization of the eyelashes?].
    Wollina U, Vogel H.
    Hautarzt; 1994 Jan 15; 45(1):42-4. PubMed ID: 8150617
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  • 20. Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.
    Takeichi T, Honda A, Okuno Y, Kojima D, Kono M, Nakamura Y, Tohyama M, Tanaka T, Aoyama Y, Akiyama M.
    Br J Dermatol; 2018 Nov 15; 179(5):1186-1188. PubMed ID: 29851033
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