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Journal Abstract Search

251 related items for PubMed ID: 23123321

  • 1. 17q21.31 microdeletion associated with infantile spasms.
    Wray CD.
    Eur J Med Genet; 2013 Jan; 56(1):59-61. PubMed ID: 23123321
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  • 2. Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.
    Allen NM, Conroy J, Shahwan A, Ennis S, Lynch B, Lynch SA, King MD.
    Am J Med Genet A; 2014 Jul; 164A(7):1863-6. PubMed ID: 24700477
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  • 3. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
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  • 5. A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.
    Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E.
    Eur J Med Genet; 2012 Nov; 55(8-9):466-71. PubMed ID: 22659270
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  • 7. Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
    Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.
    Gene; 2012 Jan 15; 492(1):319-24. PubMed ID: 22037486
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  • 12. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
    Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.
    Eur J Med Genet; 2012 Jun 15; 55(6-7):437-40. PubMed ID: 22534424
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  • 14. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.
    Eur J Med Genet; 2012 Jun 15; 55(8-9):490-7. PubMed ID: 22561202
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  • 19. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.
    Saito Y, Kubota M, Kurosawa K, Ichihashi I, Kaneko Y, Hattori A, Komaki H, Nakagawa E, Sugai K, Sasaki M.
    Brain Dev; 2011 May 15; 33(5):437-41. PubMed ID: 20708863
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