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Journal Abstract Search

277 related items for PubMed ID: 28777483

  • 1. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
    Gieldon L, Mackenroth L, Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach A.
    Am J Med Genet A; 2017 Sep; 173(9):2545-2550. PubMed ID: 28777483
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  • 2. A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants.
    Sandestig A, Green A, Aronsson J, Ellnebo K, Stefanova M.
    Mol Syndromol; 2020 Jan; 10(5):281-285. PubMed ID: 32021600
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  • 5. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
    Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.
    Indian J Med Res; 2016 Jan; 143(1):43-8. PubMed ID: 26997013
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  • 7. A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
    Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, Hobson L, Turner G, Boyle J, Field M, Hackett A, Corbett M, Gecz J.
    Eur J Hum Genet; 2016 Nov; 24(11):1612-1616. PubMed ID: 27222290
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  • 8. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
    Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C.
    Am J Med Genet A; 2014 Apr; 164A(4):918-23. PubMed ID: 24458433
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  • 9. Next-generation sequencing in X-linked intellectual disability.
    Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P.
    Eur J Hum Genet; 2015 Nov; 23(11):1513-8. PubMed ID: 25649377
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  • 11. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
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  • 12. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.
    Eur J Paediatr Neurol; 2017 May 02; 21(3):475-484. PubMed ID: 28027854
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  • 13. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
    Wada T, Sugie H, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2005 Sep 15; 138(1):18-20. PubMed ID: 16100724
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  • 14. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
    Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.
    Hum Genet; 2014 Nov 15; 133(11):1359-67. PubMed ID: 25037250
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  • 15. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
    Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destrée A, Lederer D, Moortgat S.
    Eur J Med Genet; 2016 Oct 15; 59(10):522-5. PubMed ID: 27465203
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  • 16. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
    Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G.
    Hum Mutat; 2016 Aug 15; 37(8):804-11. PubMed ID: 27159028
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  • 17. Identification of a DLG3 stop mutation in the MRX20 family.
    Huyghebaert J, Mateiu L, Elinck E, Van Rossem KE, Christiaenssen B, D'Incal CP, McCormack MK, Lazzarini A, Vandeweyer G, Kooy RF.
    Eur J Hum Genet; 2024 Mar 15; 32(3):317-323. PubMed ID: 38273165
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  • 18. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
    Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.
    J Med Genet; 2012 Aug 15; 49(8):539-43. PubMed ID: 22889856
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  • 19. X-linked intellectual disability: Phenotypic expression in carrier females.
    Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G.
    Clin Genet; 2020 Mar 15; 97(3):418-425. PubMed ID: 31705537
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  • 20. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
    Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H.
    OMICS; 2017 May 15; 21(5):295-303. PubMed ID: 28481730
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