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Journal Abstract Search

288 related items for PubMed ID: 19076794

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  • 5. Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
    Shimomura Y, Wajid M, Kurban M, Christiano AM.
    Dermatology; 2010; 220(3):208-12. PubMed ID: 20203473
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  • 8. Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
    Tariq M, Ayub M, Jelani M, Basit S, Naz G, Wasif N, Raza SI, Naveed AK, ullah Khan S, Azeem Z, Yasinzai M, Wali A, Ali G, Chishti MS, Ahmad W.
    Br J Dermatol; 2009 May; 160(5):1006-10. PubMed ID: 19292720
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  • 10. 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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  • 11. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
    Naeem M, Muhammad D, Ahmad W.
    Br J Dermatol; 2005 Jul; 153(1):46-50. PubMed ID: 16029325
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  • 12. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
    Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W.
    J Dermatol Sci; 2009 Apr; 54(1):12-6. PubMed ID: 19167195
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  • 13. A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.
    Khan B, Ahmed Z, Ahmad W.
    J Investig Med; 2010 Jun; 58(5):720-4. PubMed ID: 20305575
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  • 14. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
    Vicente LP, Finzi S, Susanna R, Young TL.
    Arq Bras Oftalmol; 2017 Jun; 80(1):49-51. PubMed ID: 28380103
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  • 15. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
    Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.
    Clin Genet; 2011 Mar; 79(3):273-81. PubMed ID: 20528890
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  • 17. Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
    Naqvi SK, Wasif N, Javaid H, Ahmad W.
    Orthod Craniofac Res; 2011 Aug; 14(3):156-9. PubMed ID: 21771270
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  • 18. 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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  • 19. Histopathology of hypotrichosis with juvenile macular dystrophy.
    Bergman R, Sapir M, Sprecher E.
    Am J Dermatopathol; 2004 Jun; 26(3):205-9. PubMed ID: 15166507
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