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Journal Abstract Search

219 related items for PubMed ID: 29070031

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  • 6. 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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  • 7. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
    Bierhals T, Maddukuri SB, Kutsche K, Girisha KM.
    Am J Med Genet A; 2013 Feb; 161A(2):352-9. PubMed ID: 23307502
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  • 13. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
    Al Dhaibani MA, Allingham-Hawkins D, El-Hattab AW.
    BMC Med Genet; 2017 Oct 23; 18(1):118. PubMed ID: 29061174
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  • 15. A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
    Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR.
    PLoS One; 2010 Aug 27; 5(8):e12462. PubMed ID: 20805988
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  • 17. A family with an inverted tandem duplication 5q22.1q23.2.
    Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M.
    Cytogenet Genome Res; 2013 Aug 27; 139(1):65-70. PubMed ID: 23051634
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  • 18. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
    Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.
    Eur J Hum Genet; 2010 Apr 27; 18(4):436-41. PubMed ID: 19904302
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  • 19. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.
    Eur J Med Genet; 2016 Jun 27; 59(6-7):347-53. PubMed ID: 27180140
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