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Journal Abstract Search

157 related items for PubMed ID: 18412118

  • 1. The clinical spectrum of homozygous HOXA1 mutations.
    Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP.
    Am J Med Genet A; 2008 May 15; 146A(10):1235-40. PubMed ID: 18412118
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  • 4. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
    Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC.
    Nat Genet; 2005 Oct 15; 37(10):1035-7. PubMed ID: 16155570
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  • 6. HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.
    Abu-Amero KK, Hagr Aa, Almomani MO, Azad TA, Alorainy IA, Oystreck DT, Bosley TM.
    Can J Neurol Sci; 2014 Jul 15; 41(4):448-51. PubMed ID: 24878468
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  • 8. Cardiovascular defects in a mouse model of HOXA1 syndrome.
    Makki N, Capecchi MR.
    Hum Mol Genet; 2012 Jan 01; 21(1):26-31. PubMed ID: 21940751
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  • 17. hoxa1a-Null Zebrafish as a Model for Studying HOXA1-Associated Heart Malformation in Bosley-Salih-Alorainy Syndrome.
    Wang H, He J, Han X, Wu X, Ye X, Lv W, Zu Y.
    Biology (Basel); 2023 Jun 23; 12(7):. PubMed ID: 37508332
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  • 18. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
    Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO.
    Hum Mutat; 2011 Apr 23; 32(4):E2069-78. PubMed ID: 21412941
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  • 20. Molecular-clinical spectrum of the ATR-X syndrome.
    Gibbons RJ, Higgs DR.
    Am J Med Genet; 2000 Apr 23; 97(3):204-12. PubMed ID: 11449489
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