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Journal Abstract Search

86 related items for PubMed ID: 22579605

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  • 2. 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. A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
    Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC.
    PLoS One; 2015 Jan; 10(6):e0129811. PubMed ID: 26115030
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  • 5. Ellis-van Creveld syndrome. An inbred kindred with five cases.
    Waldrigues A, Grohmann LC, Takahashi T, Reis HM.
    Rev Bras Pesqui Med Biol; 1977 Jun; 10(3):193-8. PubMed ID: 887831
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  • 6. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
    Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW.
    Am J Hum Genet; 1997 Dec; 61(6):1405-12. PubMed ID: 9399901
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  • 8. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.
    Rafiq MA, Faiyaz-Ul-Haque M, Ud Din MA, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui LC, Ahmad W.
    J Invest Dermatol; 2005 Feb; 124(2):338-42. PubMed ID: 15675952
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  • 9. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.
    Naeem M, Jelani M, Lee K, Ali G, Chishti MS, Wali A, Gul A, John P, Hassan MJ, Leal SM, Ahmad W.
    Br J Dermatol; 2006 Dec; 155(6):1184-90. PubMed ID: 17107387
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  • 10. Ellis van Creveld syndome.
    Ghanekar J, Sangrampurkar S, Hulinaykar R, Ahmer T.
    J Assoc Physicians India; 2009 Jul; 57():532-4. PubMed ID: 20329417
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  • 11. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
    Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N.
    Eur J Dermatol; 2010 Jul; 20(4):443-6. PubMed ID: 20409997
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  • 13. A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.
    Khaliq S, Hameed A, Ismail M, Anwar K, Mehdi SQ.
    Invest Ophthalmol Vis Sci; 2002 Jul; 43(7):2083-7. PubMed ID: 12091400
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  • 17. Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.
    Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.
    Genet Couns; 2005 Jul; 16(1):75-83. PubMed ID: 15844783
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  • 18. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
    Aziz A, Raza SI, Ali S, Ahmad W.
    Clin Dysmorphol; 2016 Jan; 25(1):1-6. PubMed ID: 26580685
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