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PUBMED FOR HANDHELDS

Journal Abstract Search


195 related items for PubMed ID: 18452889

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  • 2. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
    Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW.
    Am J Med Genet A; 2011 Aug; 155A(8):1976-80. PubMed ID: 21739581
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  • 3. Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.
    Loddo S, Parisi V, Doccini V, Filippi T, Bernardini L, Brovedani P, Ricci F, Novelli A, Battaglia A.
    Am J Med Genet A; 2013 Aug; 161A(8):2084-7. PubMed ID: 23825019
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  • 6. Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes.
    Mhamdi O, Kharrat M, Mrad R, Maazoul F, Chaabouni Bouhamed H.
    Tunis Med; 2011 May; 89(5):479-84. PubMed ID: 21557188
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  • 9. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
    Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H.
    Hum Genet; 2011 Feb; 129(2):141-8. PubMed ID: 21063731
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  • 10. 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; 85(6):909-15. PubMed ID: 20004765
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  • 12. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
    El Chehadeh S, Bonnet C, Callier P, Béri M, Dupré T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C.
    JIMD Rep; 2015 Dec; 20():45-55. PubMed ID: 25626710
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  • 15. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
    Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
    Hum Genet; 2006 Feb; 118(6):708-15. PubMed ID: 16311745
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  • 16. Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China.
    Zhang MJ, Xing LX, Cui M, Yang X, Shi JG, Li J, Zhang KJ, Zheng ZJ, Zhang FC, Li JL, Gao XC.
    Genet Mol Res; 2015 May 12; 14(2):5022-30. PubMed ID: 25966277
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  • 18. Loss of the oligosaccharyl transferase subunit TUSC3 promotes proliferation and migration of ovarian cancer cells.
    Vaňhara P, Horak P, Pils D, Anees M, Petz M, Gregor W, Zeillinger R, Krainer M.
    Int J Oncol; 2013 Apr 12; 42(4):1383-9. PubMed ID: 23404293
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  • 19. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
    Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M.
    Am J Hum Genet; 2008 Apr 12; 82(4):1011-8. PubMed ID: 18387594
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  • 20. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
    Rehman Su, Baig SM, Eiberg H, Rehman Su, Ahmad I, Malik NA, Tommerup N, Hansen L.
    Neurogenetics; 2011 Aug 12; 12(3):247-51. PubMed ID: 21643797
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