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Journal Abstract Search

420 related items for PubMed ID: 17480035

  • 21.
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  • 22. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
    Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
    Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
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  • 24. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
    Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D.
    Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
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  • 25. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
    Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.
    Nat Genet; 2006 Sep; 38(9):1038-42. PubMed ID: 16906162
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  • 28. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
    Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.
    Eur J Med Genet; 2010 Sep; 53(2):93-9. PubMed ID: 20132918
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  • 31. Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
    Gustavsson P, Schoumans J, Staaf J, Borg A, Nordenskjöld M, Annerén G.
    Eur J Med Genet; 2007 Sep; 50(3):237-41. PubMed ID: 17387046
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  • 32. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
    de Ravel T, Aerssens P, Vermeesch JR, Fryns JP.
    Eur J Med Genet; 2005 Sep; 48(3):355-9. PubMed ID: 16179232
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  • 33. Autism-associated familial microdeletion of Xp11.22.
    Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME.
    Clin Genet; 2008 Aug; 74(2):134-44. PubMed ID: 18498374
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  • 34. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
    Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.
    Eur J Hum Genet; 2008 Jan; 16(1):18-27. PubMed ID: 17940555
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  • 36. DISC1 duplication in two brothers with autism and mild mental retardation.
    Crepel A, Breckpot J, Fryns JP, De la Marche W, Steyaert J, Devriendt K, Peeters H.
    Clin Genet; 2010 Apr; 77(4):389-94. PubMed ID: 20002455
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  • 38. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
    Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA.
    J Med Genet; 2004 Dec; 41(12):892-9. PubMed ID: 15591274
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  • 40. Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.
    Reutter H, Hoischen A, Ludwig M, Stein R, Radlwimmer B, Engels H, Wolffenbuttel KP, Weber RG.
    BJU Int; 2007 Sep; 100(3):646-50. PubMed ID: 17669146
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