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Journal Abstract Search

147 related items for PubMed ID: 23220431

  • 1. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
    Schanze I, Schanze D, Bacino CA, Douzgou S, Kerr B, Zenker M.
    Eur J Med Genet; 2013 Feb; 56(2):108-13. PubMed ID: 23220431
    [Abstract] [Full Text] [Related]

  • 2. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
    Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A.
    Am J Med Genet A; 2015 Nov; 167A(11):2548-54. PubMed ID: 26111154
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  • 7. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
    Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.
    Hum Mutat; 2012 Apr; 33(4):728-40. PubMed ID: 22290657
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  • 8. Array CGH analysis of a cohort of Russian patients with intellectual disability.
    Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN.
    Gene; 2014 Feb 15; 536(1):145-50. PubMed ID: 24291026
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  • 9. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.
    J Med Genet; 2012 Dec 15; 49(12):731-6. PubMed ID: 23099646
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  • 10. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
    Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E.
    Orphanet J Rare Dis; 2013 Jan 07; 8():3. PubMed ID: 23294540
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  • 11. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
    Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.
    Genet Med; 2020 Mar 07; 22(3):524-537. PubMed ID: 31578471
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  • 12. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
    Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.
    Eur J Med Genet; 2012 Apr 07; 55(4):274-7. PubMed ID: 22450339
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  • 13. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.
    Gene; 2013 Mar 01; 516(1):158-61. PubMed ID: 23266801
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  • 14. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
    Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D.
    Eur J Med Genet; 2014 Sep 01; 57(9):513-9. PubMed ID: 24911659
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  • 15. Inv21p12q22del21q22 and intellectual disability.
    Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP.
    Gene; 2013 Mar 15; 517(1):120-4. PubMed ID: 23266646
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  • 16. Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
    Lian R, Wu G, Xu F, Zhao S, Li M, Wang H, Jia T, Dong Y.
    Orphanet J Rare Dis; 2024 Jul 29; 19(1):281. PubMed ID: 39075495
    [Abstract] [Full Text] [Related]

  • 17. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.
    Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J.
    Am J Med Genet A; 2015 Jun 29; 167(6):1315-22. PubMed ID: 25847113
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  • 18. Autosomal insertional translocation mimicking an X-linked mode of inheritance.
    Thierry G, Pichon O, Briand A, Poulain D, Sznajer Y, David A, Le Caignec C.
    Eur J Med Genet; 2013 Jan 29; 56(1):46-9. PubMed ID: 23107885
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  • 19. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
    Le Tanno P, Poreau B, Devillard F, Vieville G, Amblard F, Jouk PS, Satre V, Coutton C.
    Am J Med Genet A; 2014 Jun 29; 164A(6):1530-6. PubMed ID: 24648389
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  • 20. Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.
    Ponzi E, Asaro A, Orteschi D, Genuardi M, Zollino M, Gurrieri F.
    Eur J Med Genet; 2015 Aug 29; 58(8):400-5. PubMed ID: 26117585
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