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Journal Abstract Search

96 related items for PubMed ID: 28085531

  • 1. Reconciling genotype with phenotype: Lessons learned on the Arabian Peninsula.
    Khan AO.
    Ophthalmic Genet; 2017; 38(1):2-6. PubMed ID: 28085531
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  • 3. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.
    Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S.
    Ophthalmic Genet; 2017 Dec; 38(6):570-574. PubMed ID: 28481155
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  • 4. PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.
    Khan AO, Aldahmesh MA.
    Ophthalmic Genet; 2008 Sep; 29(3):145-8. PubMed ID: 18766996
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  • 8. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
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  • 9. Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls.
    Ali A, Feroze AH, Rizvi ZH, Rehman TU.
    Am J Ophthalmol; 2003 Oct; 136(4):767-9. PubMed ID: 14516833
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  • 10. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
    Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA.
    PLoS One; 2016 Oct; 11(11):e0162620. PubMed ID: 27814360
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  • 12. Consanguinity and dysmorphology in Arabs.
    Al-Gazali L, Hamamy H.
    Hum Hered; 2014 Oct; 77(1-4):93-107. PubMed ID: 25060273
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  • 14. 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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  • 15. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
    Lee CS, Jun I, Choi SI, Lee JH, Lee MG, Lee SC, Kim EK.
    Invest Ophthalmol Vis Sci; 2015 Dec 17; 56(13):8141-50. PubMed ID: 26720466
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  • 16. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
    Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.
    Acta Neuropsychiatr; 2015 Feb 17; 27(1):38-47. PubMed ID: 25434728
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  • 17. Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?
    Procopio V, Manti S, Bianco G, Conti G, Romeo A, Maimone F, Arrigo T, Cutrupi MC, Salpietro C, Cuppari C.
    Gene; 2018 Jan 30; 641():279-286. PubMed ID: 29080837
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  • 18. Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia.
    Saffra N, Agarwal S, Chiang JP, Masini R, Bertolucci A.
    Arch Ophthalmol; 2012 Oct 30; 130(10):1324-7. PubMed ID: 23044950
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  • 19. 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 30; 79(3):273-81. PubMed ID: 20528890
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  • 20. Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.
    Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A.
    J Biosoc Sci; 2009 Sep 30; 41(5):575-81. PubMed ID: 19433002
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