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Journal Abstract Search

373 related items for PubMed ID: 22548977

  • 1. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
    Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.
    Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977
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  • 2. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C.
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
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  • 6. Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.
    Hannachi H, Mougou-Zerelli S, BenAbdallah I, Mama N, Hamdi I, Labalme A, Elghezal H, Sanlaville D, Saad A.
    Cytogenet Genome Res; 2011 Dec; 135(2):102-10. PubMed ID: 21876345
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  • 12. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
    Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.
    Eur J Med Genet; 2012 Apr; 55(4):274-7. PubMed ID: 22450339
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  • 13. [Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].
    Borg K, Bocian E, Stankiewicz P, Obersztyn E, Kruczek A, Nowakowska B, Ilnicka A, Mazurczak T.
    Med Wieku Rozwoj; 2006 Apr; 10(1 Pt 2):227-46. PubMed ID: 17028391
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  • 14. 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; 55(6-7):437-40. PubMed ID: 22534424
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  • 17. Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
    Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.
    J Hum Genet; 2012 Mar; 57(3):191-6. PubMed ID: 22258158
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