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Journal Abstract Search

117 related items for PubMed ID: 21248743

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  • 4. A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
    Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
    BMC Med Genet; 2011 Apr 22; 12():56. PubMed ID: 21513506
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  • 5. 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 22; 27(1):38-47. PubMed ID: 25434728
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  • 10. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
    Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M.
    J Med Genet; 2006 Mar 22; 43(3):203-10. PubMed ID: 16033914
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  • 12. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
    Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C.
    Hum Mol Genet; 2011 Apr 01; 20(7):1285-9. PubMed ID: 21212097
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  • 14. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
    Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.
    Eur J Med Genet; 2014 Oct 01; 57(10):543-51. PubMed ID: 25078763
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  • 16. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
    Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A.
    Eur J Hum Genet; 2009 Jan 01; 17(1):125-8. PubMed ID: 18781183
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  • 18. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
    Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB.
    Am J Hum Genet; 2009 Dec 01; 85(6):909-15. PubMed ID: 20004765
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  • 19. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
    Froukh TJ.
    Tohoku J Exp Med; 2017 Dec 01; 243(4):297-309. PubMed ID: 29269699
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