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Journal Abstract Search

230 related items for PubMed ID: 18515018

  • 1. [Management of the CNVs in constitutional human genetics using array CGH].
    Nemos C, Bursztejn AC, Jonveaux P.
    Pathol Biol (Paris); 2008 Sep; 56(6):354-61. PubMed ID: 18515018
    [Abstract] [Full Text] [Related]

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

  • 3. Microarray-based comparative genomic hybridization and its applications in human genetics.
    Oostlander AE, Meijer GA, Ylstra B.
    Clin Genet; 2004 Dec; 66(6):488-95. PubMed ID: 15521975
    [Abstract] [Full Text] [Related]

  • 4. [Array-CGH for routine diagnosis of cryptic chromosomal imbalances].
    Andrieux J.
    Pathol Biol (Paris); 2008 Sep; 56(6):368-74. PubMed ID: 18514435
    [Abstract] [Full Text] [Related]

  • 5. Recent advances in array comparative genomic hybridization technologies and their applications in human genetics.
    Lockwood WW, Chari R, Chi B, Lam WL.
    Eur J Hum Genet; 2006 Feb; 14(2):139-48. PubMed ID: 16288307
    [Abstract] [Full Text] [Related]

  • 6. Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.
    Gouas L, Goumy C, Véronèse L, Tchirkov A, Vago P.
    Pathol Biol (Paris); 2008 Sep; 56(6):345-53. PubMed ID: 18513889
    [Abstract] [Full Text] [Related]

  • 7. Array-based comparative genomic hybridization in clinical diagnosis.
    Bejjani BA, Theisen AP, Ballif BC, Shaffer LG.
    Expert Rev Mol Diagn; 2005 May; 5(3):421-9. PubMed ID: 15934818
    [Abstract] [Full Text] [Related]

  • 8. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
    Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T.
    Hum Mutat; 2008 Sep; 29(9):1083-90. PubMed ID: 18683213
    [Abstract] [Full Text] [Related]

  • 9. Resolving the resolution of array CGH.
    Coe BP, Ylstra B, Carvalho B, Meijer GA, Macaulay C, Lam WL.
    Genomics; 2007 May; 89(5):647-53. PubMed ID: 17276656
    [Abstract] [Full Text] [Related]

  • 10. Across array comparative genomic hybridization: a strategy to reduce reference channel hybridizations.
    Buffart TE, Israeli D, Tijssen M, Vosse SJ, Mrsić A, Meijer GA, Ylstra B.
    Genes Chromosomes Cancer; 2008 Nov; 47(11):994-1004. PubMed ID: 18663753
    [Abstract] [Full Text] [Related]

  • 11. Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization.
    Cho SC, Yim SH, Yoo HK, Kim MY, Jung GY, Shin GW, Kim BN, Hwang JW, Kang JJ, Kim TM, Chung YJ.
    Psychiatr Genet; 2009 Aug; 19(4):177-85. PubMed ID: 19407672
    [Abstract] [Full Text] [Related]

  • 12. Large-scale copy number variants (CNVs) detected in different ethnic human populations.
    Takahashi N, Satoh Y, Kodaira M, Katayama H.
    Cytogenet Genome Res; 2008 Aug; 123(1-4):224-33. PubMed ID: 19287159
    [Abstract] [Full Text] [Related]

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  • 14. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
    del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.
    Hum Mutat; 2008 Sep; 29(9):1100-7. PubMed ID: 18752307
    [Abstract] [Full Text] [Related]

  • 15. [Strategies to identify supernumerary chromosomal markers in constitutional cytogenetics].
    Douet-Guilbert N, Basinko A, Le Bris MJ, Herry A, Morel F, De Braekeleer M.
    Pathol Biol (Paris); 2008 Sep; 56(6):362-7. PubMed ID: 18456432
    [Abstract] [Full Text] [Related]

  • 16. Molecular karyotyping in human constitutional cytogenetics.
    Sanlaville D, Lapierre JM, Turleau C, Coquin A, Borck G, Colleaux L, Vekemans M, Romana SP.
    Eur J Med Genet; 2005 Sep; 48(3):214-31. PubMed ID: 16179218
    [Abstract] [Full Text] [Related]

  • 17. Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs.
    Nuytten H, Wlodarska I, Nackaerts K, Vermeire S, Vermeesch J, Cassiman JJ, Cuppens H.
    J Immunol Methods; 2009 May 15; 344(1):35-44. PubMed ID: 19298822
    [Abstract] [Full Text] [Related]

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  • 20. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.
    Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K.
    J Med Genet; 2009 Jun 15; 46(6):412-7. PubMed ID: 19246478
    [Abstract] [Full Text] [Related]

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