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117 related items for PubMed ID: 24040793

  • 21. Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway.
    Bavley CC, Rice RC, Fischer DK, Fakira AK, Byrne M, Kosovsky M, Rizzo BK, Del Prete D, Alaedini A, Morón JA, Higgins JJ, D'Adamio L, Rajadhyaksha AM.
    J Neurosci; 2018 Mar 14; 38(11):2780-2795. PubMed ID: 29459374
    [Abstract] [Full Text] [Related]

  • 22. Structural, phylogenetic and docking studies of D-amino acid oxidase activator (DAOA), a candidate schizophrenia gene.
    Sehgal SA, Khattak NA, Mir A.
    Theor Biol Med Model; 2013 Jan 04; 10():3. PubMed ID: 23286827
    [Abstract] [Full Text] [Related]

  • 23. Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila.
    Klein M, Singgih EL, van Rens A, Demontis D, Børglum AD, Mota NR, Castells-Nobau A, Kiemeney LA, Brunner HG, Arias-Vasquez A, Schenck A, van der Voet M, Franke B.
    Am J Psychiatry; 2020 Jun 01; 177(6):526-536. PubMed ID: 32046534
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  • 24. Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.
    Krämer J, Beer M, Bode H, Winter B.
    Front Genet; 2020 Jun 01; 11():972. PubMed ID: 33719327
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  • 25. Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.
    Hnoonual A, Graidist P, Kritsaneepaiboon S, Limprasert P.
    Front Genet; 2019 Jun 01; 10():61. PubMed ID: 30853973
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  • 26. Genetics of non-syndromic autosomal recessive mental retardation.
    Afroze B, Chaudhry B.
    J Pak Med Assoc; 2013 Jan 01; 63(1):106-10. PubMed ID: 23865144
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  • 27. TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
    Uctepe E, Yesilyurt A, Esen FN, Tumer S, Mancilar H, Sonmez FM.
    Mol Syndromol; 2023 Dec 01; 14(6):485-492. PubMed ID: 38058760
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  • 28. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
    Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH.
    Hum Genet; 2007 Mar 01; 121(1):43-8. PubMed ID: 17120046
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  • 29. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.
    Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, Colleaux L.
    Am J Hum Genet; 2009 Dec 01; 85(6):903-8. PubMed ID: 20004764
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  • 30. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.
    Eur J Med Genet; 2020 May 01; 63(5):103853. PubMed ID: 31978613
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  • 31. Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
    Sánchez Delgado M, Camprubí C, Tümer Z, Martínez F, Milà M, Monk D.
    Am J Med Genet B Neuropsychiatr Genet; 2014 Sep 01; 165B(6):472-8. PubMed ID: 24980697
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  • 32. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
    Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.
    J Med Genet; 2017 Apr 01; 54(4):236-240. PubMed ID: 28143899
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  • 33. Gene networks associated with non-syndromic intellectual disability.
    Lee S, Rudd S, Gratten J, Visscher PM, Prins JB, Dawson PA.
    J Neurogenet; 2018 Mar 01; 32(1):6-14. PubMed ID: 29199528
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  • 34. SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
    Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L.
    Am J Hum Genet; 2010 Nov 12; 87(5):694-700. PubMed ID: 21035105
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  • 35. The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
    Khan MA, Khan S, Windpassinger C, Badar M, Nawaz Z, Mohammad RM.
    Ann Hum Genet; 2016 Nov 12; 80(6):342-368. PubMed ID: 27870114
    [Abstract] [Full Text] [Related]

  • 36. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
    Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW.
    Clin Genet; 2010 Nov 12; 78(5):478-83. PubMed ID: 20345473
    [Abstract] [Full Text] [Related]

  • 37. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.
    Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GB, Romano C, d'Adamo AP, Faletra F, Vozzi D.
    Mutat Res; 2015 Nov 12; 781():32-6. PubMed ID: 26411299
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  • 38. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.
    PLoS One; 2014 Nov 12; 9(11):e112687. PubMed ID: 25405613
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  • 39. Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases.
    Bodnar B, DeGruttola A, Zhu Y, Lin Y, Zhang Y, Mo X, Hu W.
    Transl Res; 2020 Oct 12; 224():55-70. PubMed ID: 32434006
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  • 40. Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review.
    Bolat H, Ünsel-Bolat G, Derin H, Şen A, Ceylaner S.
    Mol Syndromol; 2022 Jul 12; 13(4):263-269. PubMed ID: 36158060
    [Abstract] [Full Text] [Related]

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