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Journal Abstract Search

382 related items for PubMed ID: 22989526

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  • 4. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
    Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA.
    Am J Hum Genet; 2009 Dec; 85(6):897-902. PubMed ID: 20004763
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  • 6. Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
    Yousefipour F, Mozhdehipanah H, Mahjoubi F.
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1610. PubMed ID: 33513295
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  • 7. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
    Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C.
    Eur J Med Genet; 2021 Dec; 64(12):104373. PubMed ID: 34737153
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  • 8. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
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  • 9. 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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  • 10. 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; 82(4):1011-8. PubMed ID: 18387594
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  • 11. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
    Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A.
    Eur J Hum Genet; 2011 Nov; 19(11):1161-6. PubMed ID: 21629298
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  • 12. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
    Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S.
    Am J Med Genet A; 2015 Dec; 167A(12):3148-52. PubMed ID: 26333564
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  • 13. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
    Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S.
    Ann Saudi Med; 2016 Dec; 36(6):391-396. PubMed ID: 27920410
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  • 14. 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; 27(1):38-47. PubMed ID: 25434728
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  • 15. Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
    Aslanger AD, Goncu B, Duzenli OF, Yucesan E, Sengenc E, Yesil G.
    J Hum Genet; 2022 May; 67(5):279-284. PubMed ID: 34983975
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  • 20. 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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