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258 related items for PubMed ID: 17910076

  • 1. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
    Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC.
    Am J Med Genet C Semin Med Genet; 2007 Nov 15; 145C(4):335-45. PubMed ID: 17910076
    [Abstract] [Full Text] [Related]

  • 2. 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 15; 42(9):699-705. PubMed ID: 16141005
    [Abstract] [Full Text] [Related]

  • 3. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
    Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA.
    J Pediatr; 2006 Jul 15; 149(1):98-102. PubMed ID: 16860135
    [Abstract] [Full Text] [Related]

  • 4. Medical applications of array CGH and the transformation of clinical cytogenetics.
    Shaffer LG, Bejjani BA.
    Cytogenet Genome Res; 2006 Jul 15; 115(3-4):303-9. PubMed ID: 17124414
    [Abstract] [Full Text] [Related]

  • 5. [Diagnosis of cryptic chromosome aberrations].
    Ness GO, Houge G.
    Tidsskr Nor Laegeforen; 2003 Sep 11; 123(17):2418-21. PubMed ID: 14562774
    [Abstract] [Full Text] [Related]

  • 6. A cytogeneticist's perspective on genomic microarrays.
    Shaffer LG, Bejjani BA.
    Hum Reprod Update; 2004 Sep 11; 10(3):221-6. PubMed ID: 15140869
    [Abstract] [Full Text] [Related]

  • 7. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies.
    Edelmann L, Hirschhorn K.
    Ann N Y Acad Sci; 2009 Jan 11; 1151():157-66. PubMed ID: 19154522
    [Abstract] [Full Text] [Related]

  • 8. The array CGH and its clinical applications.
    Shinawi M, Cheung SW.
    Drug Discov Today; 2008 Sep 11; 13(17-18):760-70. PubMed ID: 18617013
    [Abstract] [Full Text] [Related]

  • 9. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.
    Genet Med; 2007 Sep 11; 9(9):607-16. PubMed ID: 17873649
    [Abstract] [Full Text] [Related]

  • 10. Screening of genomic imbalances in glioblastoma multiforme using high-resolution comparative genomic hybridization.
    Vranová V, Necesalová E, Kuglík P, Cejpek P, Pesáková M, Budínská E, Relichová J, Veselská R.
    Oncol Rep; 2007 Feb 11; 17(2):457-64. PubMed ID: 17203188
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
    Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR.
    Prenat Diagn; 2007 Dec 11; 27(12):1112-7. PubMed ID: 17849500
    [Abstract] [Full Text] [Related]

  • 12. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
    Lee C, Iafrate AJ, Brothman AR.
    Nat Genet; 2007 Jul 11; 39(7 Suppl):S48-54. PubMed ID: 17597782
    [Abstract] [Full Text] [Related]

  • 13. BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints.
    Ren H, Francis W, Boys A, Chueh AC, Wong N, La P, Wong LH, Ryan J, Slater HR, Choo KH.
    Hum Mutat; 2005 May 11; 25(5):476-82. PubMed ID: 15832308
    [Abstract] [Full Text] [Related]

  • 14. Molecular cytogenetic evaluation of 10 uveal melanoma cell lines.
    White JS, Becker RL, McLean IW, Director-Myska AE, Nath J.
    Cancer Genet Cytogenet; 2006 Jul 01; 168(1):11-21. PubMed ID: 16772116
    [Abstract] [Full Text] [Related]

  • 15. Advances in molecular cytogenetics for the evaluation of mental retardation.
    Xu J, Chen Z.
    Am J Med Genet C Semin Med Genet; 2003 Feb 15; 117C(1):15-24. PubMed ID: 12561054
    [Abstract] [Full Text] [Related]

  • 16. Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniques.
    Woo KS, Sung KS, Kim KU, Shaffer LG, Han JY.
    Cancer Genet Cytogenet; 2008 Jan 01; 180(1):56-9. PubMed ID: 18068535
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 116(2):339-43. PubMed ID: 19018765
    [Abstract] [Full Text] [Related]

  • 18. Efficacy of high-resolution comparative genomic hybridization (HR-CGH) in detection of chromosomal abnormalities in children with acute leukaemia.
    Vranova V, Mentzlova D, Oltova A, Linkova V, Zezulkova D, Filkova H, Mendelova D, Sterba J, Kuglik P.
    Neoplasma; 2008 Jan 01; 55(1):23-30. PubMed ID: 18190236
    [Abstract] [Full Text] [Related]

  • 19. The use of genomic microarrays to study chromosomal abnormalities in mental retardation.
    Mao R, Pevsner J.
    Ment Retard Dev Disabil Res Rev; 2005 Jan 01; 11(4):279-85. PubMed ID: 16240409
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 45(7):432-7. PubMed ID: 18413373
    [Abstract] [Full Text] [Related]

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