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Journal Abstract Search


167 related items for PubMed ID: 15805154

  • 1. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
    Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T.
    J Med Genet; 2005 Apr; 42(4):292-8. PubMed ID: 15805154
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  • 2. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
    Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E.
    J Invest Dermatol; 2002 Nov; 119(5):1210-3. PubMed ID: 12445216
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  • 4. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
    Vicente LP, Finzi S, Susanna R, Young TL.
    Arq Bras Oftalmol; 2017 Nov; 80(1):49-51. PubMed ID: 28380103
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  • 7. Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
    Shimomura Y, Wajid M, Kurban M, Christiano AM.
    Dermatology; 2010 Nov; 220(3):208-12. PubMed ID: 20203473
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  • 8. A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.
    Jelani M, Salman Chishti M, Ahmad W.
    Clin Exp Dermatol; 2009 Jan; 34(1):68-73. PubMed ID: 19076794
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  • 9. Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
    Indelman M, Eason J, Hummel M, Loza O, Suri M, Leys MJ, Bayne M, Schwartz FL, Sprecher E.
    Clin Exp Dermatol; 2007 Mar; 32(2):191-6. PubMed ID: 17342797
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  • 12. CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.
    Basel-Vanagaite L, Pasmanik-Chor M, Lurie R, Yeheskel A, Kjaer KW.
    Mol Syndromol; 2010 Mar; 1(5):223-230. PubMed ID: 22140374
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  • 16. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
    Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J.
    Mol Genet Genomic Med; 2019 Nov; 7(11):e975. PubMed ID: 31560841
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  • 17. Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
    Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E.
    Br J Dermatol; 2005 Sep; 153(3):635-8. PubMed ID: 16120155
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  • 20. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle.
    Samuelov L, Sprecher E, Paus R.
    Cell Tissue Res; 2015 Jun; 360(3):761-71. PubMed ID: 25707507
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