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Journal Abstract Search

165 related items for PubMed ID: 22753084

  • 1. Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
    Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ.
    Am J Med Genet A; 2012 Aug; 158A(8):1832-6. PubMed ID: 22753084
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  • 2. 17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.
    Giordano L, Palestra F, Giuffrida MG, Molinaro A, Iodice A, Bernardini L, La Boria P, Accorsi P, Novelli A.
    Am J Med Genet A; 2014 Jan; 164A(1):225-30. PubMed ID: 24501763
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  • 3. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
    Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S.
    Am J Med Genet A; 2014 May; 164A(5):1277-83. PubMed ID: 24664804
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  • 6. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
    Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F.
    Eur J Hum Genet; 2015 Nov; 23(11):1473-81. PubMed ID: 25944381
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  • 15. 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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