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Journal Abstract Search

128 related items for PubMed ID: 22950449

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  • 3. Clinical characterization of the HOXA1 syndrome BSAS variant.
    Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC.
    Neurology; 2007 Sep 18; 69(12):1245-53. PubMed ID: 17875913
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  • 4. Bosley-Salih-Alorainy syndrome in patients from India.
    Patil SJ, Karthik GA, Bhavani GS, Bhat V, Matalia J, Shah J, Shukla A, Girisha KM.
    Am J Med Genet A; 2020 Nov 18; 182(11):2699-2703. PubMed ID: 32864817
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  • 5. Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.
    Abu-Amero KK, Kondkar AA, Oystreck DT, Khan AO, Bosley TM.
    Ophthalmic Genet; 2014 Sep 18; 35(3):162-9. PubMed ID: 24865192
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  • 6. Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.
    Abu-Amero KK, Kondkar A, Hellani AM, Oystreck DT, Khan AO, Bosley TM.
    Ophthalmic Genet; 2015 Jun 18; 36(2):99-104. PubMed ID: 24001015
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  • 7. Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.
    Higley MJ, Walkiewicz TW, Miller JH, Curran JG, Towbin RB.
    AJNR Am J Neuroradiol; 2011 Feb 18; 32(2):E23-5. PubMed ID: 20075099
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  • 8. 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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  • 9. CCDD Phenotype Associated with a Small Chromosome 2 Deletion.
    Abu-Amero KK, Bosley TM, Kondkar AA, Oystreck DT, Khan AO.
    Semin Ophthalmol; 2015 May 15; 30(5-6):435-42. PubMed ID: 24475916
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  • 10. HOXA1 mutations are not a common cause of Möbius syndrome.
    Rankin JK, Andrews C, Chan WM, Engle EC.
    J AAPOS; 2010 Feb 15; 14(1):78-80. PubMed ID: 20227628
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  • 11. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
    Shim SH, Shim JS, Min K, Lee HS, Park JE, Park SH, Hwang E, Kim M.
    Gene; 2014 Jan 15; 534(1):100-6. PubMed ID: 24095776
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  • 14. Xq26.3 microdeletion in a male with Wildervanck Syndrome.
    Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, Bosley TM.
    Ophthalmic Genet; 2014 Mar 15; 35(1):18-24. PubMed ID: 23373430
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  • 15. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.
    Di Maio L, Marcelli V, Vitale C, Menzione M, De Giorgio A, Briganti F, Perretti A, Marciano E, Filla A, De Michele G.
    Can J Neurol Sci; 2006 May 15; 33(2):237-9. PubMed ID: 16736738
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  • 18. 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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  • 19. 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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  • 20. Pontine tegmental cap dysplasia: the neurotologic perspective.
    Desai NK, Young L, Miranda MA, Kutz JW, Roland PS, Booth TN.
    Otolaryngol Head Neck Surg; 2011 Dec 15; 145(6):992-8. PubMed ID: 21705787
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