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Journal Abstract Search

199 related items for PubMed ID: 21163155

  • 1. 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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  • 3. 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 15; 147(9):1073-6. PubMed ID: 21931045
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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 15; 30(4):419-21. PubMed ID: 15953085
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  • 5. 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 Jul 15; 31(4):493-6. PubMed ID: 24915996
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  • 6. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
    Arnold AW, Bruckner-Tuderman L, Has C, Happle R.
    Br J Dermatol; 2012 Jun 15; 166(6):1309-13. PubMed ID: 22229330
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  • 8. 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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  • 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 Dec 15; 50(5):392-8. PubMed ID: 17625999
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  • 11. Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
    Del Río-Martínez CJ, de León-Jiménez B, Ramos-Gómez LI, Martinez R, Durán-Mckinster C, Tosti A, Vázquez-Herrera NE.
    Pediatr Dermatol; 2023 Mar 15; 40(2):333-336. PubMed ID: 36263758
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  • 13. 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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  • 14. Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
    Batista M, Morgado F, Cardoso JC, Moreno A, Ramos L.
    Dermatol Online J; 2020 Oct 15; 26(10):. PubMed ID: 33147667
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  • 15. Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.
    Lindenthal B, Repgen R, Emons D, Lentze MJ, von Bergmann K, Lütjohann D.
    Klin Padiatr; 2004 Oct 15; 216(2):67-9. PubMed ID: 15106076
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  • 19. 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 15; 167(6):1309-14. PubMed ID: 25846959
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  • 20. Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
    Ozyurt K, Subasioglu A, Ozturk P, Inci R, Ozkan F, Bueno E, Cañueto J, González Sarmiento R.
    Indian J Dermatol; 2015 Jun 15; 60(2):216. PubMed ID: 25814754
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