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Journal Abstract Search

842 related items for PubMed ID: 18184143

  • 1. A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
    Tariq M, Chishti MS, Ali G, Ahmad W.
    Ann Hum Genet; 2008 Jan; 72(Pt 1):19-25. PubMed ID: 18184143
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  • 3. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
    Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.
    Clin Genet; 2007 Jul; 72(1):23-9. PubMed ID: 17594396
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  • 7. Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
    Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W.
    J Med Genet; 2009 Jan; 46(1):14-20. PubMed ID: 18805827
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  • 9. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
    Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291
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  • 10. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
    Naeem M, Wajid M, Lee K, Leal SM, Ahmad W.
    J Med Genet; 2006 Mar; 43(3):274-9. PubMed ID: 16525032
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  • 13. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 14. Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
    Bibi N, Ahmad S, Ahmad W, Naeem M.
    Australas J Dermatol; 2011 Feb 17; 52(1):37-42. PubMed ID: 21332691
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  • 15. Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.
    Tariq M, Khan MN, Ahmad W.
    Hum Genet; 2009 May 17; 125(4):421-9. PubMed ID: 19221800
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  • 19. Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
    Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.
    Clin Exp Dermatol; 2011 Aug 17; 36(6):652-4. PubMed ID: 21426374
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  • 20. An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.
    Baumer A, Belli S, Trüeb RM, Schinzel A.
    Eur J Hum Genet; 2000 Jun 17; 8(6):443-8. PubMed ID: 10878665
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