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Journal Abstract Search

420 related items for PubMed ID: 17480035

  • 1. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
    Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH.
    Hum Mutat; 2007 Jul; 28(7):674-82. PubMed ID: 17480035
    [Abstract] [Full Text] [Related]

  • 2. De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.
    Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW.
    BJOG; 2009 Jan; 116(2):339-43. PubMed ID: 19018765
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  • 3. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
    Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.
    Clin Genet; 2006 Feb; 69(2):124-34. PubMed ID: 16433693
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  • 4. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
    Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M.
    J Med Genet; 2005 Sep; 42(9):699-705. PubMed ID: 16141005
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  • 5. Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
    Lybaek H, Meza-Zepeda LA, Kresse SH, Høysaeter T, Steen VM, Houge G.
    Eur J Hum Genet; 2008 Nov; 16(11):1318-28. PubMed ID: 18461090
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
    Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P.
    Hum Mutat; 2007 Oct; 28(10):1034-42. PubMed ID: 17546640
    [Abstract] [Full Text] [Related]

  • 8. Pure subtelomeric microduplications as a cause of mental retardation.
    Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.
    Clin Genet; 2007 Oct; 72(4):362-8. PubMed ID: 17850634
    [Abstract] [Full Text] [Related]

  • 9. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
    Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F.
    J Med Genet; 2008 Jul; 45(7):432-7. PubMed ID: 18413373
    [Abstract] [Full Text] [Related]

  • 10. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [Abstract] [Full Text] [Related]

  • 11. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H, Vermeesch J, Fryns JP.
    Genet Couns; 2008 Sep; 19(4):365-71. PubMed ID: 19239079
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  • 15. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
    Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS.
    Cytogenet Genome Res; 2008 Sep; 122(2):181-7. PubMed ID: 19096215
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  • 17. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.
    Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY, Yu S.
    J Hum Genet; 2011 Jul; 56(7):541-4. PubMed ID: 21614007
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  • 20. X chromosome array-CGH for the identification of novel X-linked mental retardation genes.
    Bauters M, Van Esch H, Marynen P, Froyen G.
    Eur J Med Genet; 2005 Jul; 48(3):263-75. PubMed ID: 16179222
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