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Journal Abstract Search

282 related items for PubMed ID: 23632792

  • 1. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH.
    Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792
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  • 4. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
    Noh GJ, Graham JM.
    Eur J Med Genet; 2012 Jan; 55(1):59-62. PubMed ID: 22085995
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  • 5. Severe intellectual disability and autistic features associated with microduplication 2q23.1.
    Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R.
    Eur J Hum Genet; 2012 Apr; 20(4):398-403. PubMed ID: 22085900
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  • 8. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.
    Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.
    Am J Med Genet A; 2013 Apr; 161A(4):850-5. PubMed ID: 23494922
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  • 9. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
    Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y.
    BMC Med Genet; 2014 May 29; 15():62. PubMed ID: 24885232
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  • 10. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
    Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G.
    Am J Med Genet A; 2011 Feb 29; 155A(2):424-9. PubMed ID: 21271666
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  • 13. The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome.
    Walz K, Young JI.
    Rare Dis; 2014 Feb 29; 2(1):e967151. PubMed ID: 26942102
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  • 18. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
    van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB.
    Eur J Hum Genet; 2010 Feb 29; 18(2):163-70. PubMed ID: 19809484
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