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Journal Abstract Search

85 related items for PubMed ID: 19216040

  • 1. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
    Coppola A, Striano P, Gimelli S, Ciampa C, Santulli L, Caranci F, Zuffardi O, Gimelli G, Striano S, Zara F.
    Brain Dev; 2010 Mar; 32(3):248-52. PubMed ID: 19216040
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  • 2. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE, Shim SH, Mark HF, Huang XL, Milunsky JM.
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
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  • 3. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
    Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.
    Eur J Med Genet; 2005 Jun; 48(2):159-66. PubMed ID: 16053907
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  • 4. De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.
    Debost-Legrand A, Capri Y, Gouas L, Pebrel-Richard C, Veronese L, Tchirkov A, Haoud K, Boespflug-Tanguy O, Goumy C, Vago P.
    Pathol Biol (Paris); 2011 Dec; 59(6):309-13. PubMed ID: 21145667
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  • 5. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
    Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P.
    Hum Genet; 2002 Sep; 111(3):290-6. PubMed ID: 12215843
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  • 6. Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication.
    Goossens E, Cayenberghs R, Fryns JP.
    Genet Couns; 1999 Sep; 10(2):137-40. PubMed ID: 10422006
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  • 7. De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features.
    Peippo M, Tengström C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J.
    Genet Couns; 2004 Sep; 15(3):341-6. PubMed ID: 15517827
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  • 8. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
    Lespinasse J, Gimelli S, Béna F, Antonarakis SE, Ansermet F, Paoloni-Giacobino A.
    Eur J Med Genet; 2009 Sep; 52(1):49-52. PubMed ID: 18992376
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  • 9. Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.
    Andrieux J, Richebourg S, Duban-Bedu B, Petit F, Leprêtre F, Sukno S, Dehouck MB, Delobel B.
    Eur J Med Genet; 2008 Sep; 51(4):373-81. PubMed ID: 18463015
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  • 11. An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.
    Kara N, Okten G, Guneş SO, Saglam Y, Tasdemir HA, Pinarli FA.
    Epilepsy Res; 2008 Aug; 80(2-3):219-23. PubMed ID: 18485670
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  • 15. Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
    Lo-Castro A, Giana G, Fichera M, Castiglia L, Grillo L, Musumeci SA, Galasso C, Curatolo P.
    Eur J Med Genet; 2009 Aug; 52(1):67-70. PubMed ID: 18992374
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  • 16. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
    Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA.
    J Med Genet; 2005 May; 42(5):e26. PubMed ID: 15863658
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  • 18. Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
    Fryns JP, Kleczkowska A, Kenis H, Decock P, Van den Berghe H.
    Ann Genet; 1989 May; 32(3):174-6. PubMed ID: 2573314
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