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456 related items for PubMed ID: 16351727

  • 1. A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
    Weksberg R, Hughes S, Moldovan L, Bassett AS, Chow EW, Squire JA.
    BMC Genomics; 2005 Dec 13; 6():180. PubMed ID: 16351727
    [Abstract] [Full Text] [Related]

  • 2. Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis.
    Chen YF, Kou PL, Tsai SJ, Chen KF, Chan HH, Chen CM, Sun HS.
    Genomics; 2006 Feb 13; 87(2):290-7. PubMed ID: 16307865
    [Abstract] [Full Text] [Related]

  • 3. DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.
    Mantripragada KK, Tapia-Páez I, Blennow E, Nilsson P, Wedell A, Dumanski JP.
    Int J Mol Med; 2004 Feb 13; 13(2):273-9. PubMed ID: 14719134
    [Abstract] [Full Text] [Related]

  • 4. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.
    Boehm D, Herold S, Kuechler A, Liehr T, Laccone F.
    Hum Mutat; 2004 Apr 13; 23(4):368-78. PubMed ID: 15024731
    [Abstract] [Full Text] [Related]

  • 5. Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer.
    Kloth JN, Oosting J, van Wezel T, Szuhai K, Knijnenburg J, Gorter A, Kenter GG, Fleuren GJ, Jordanova ES.
    BMC Genomics; 2007 Feb 20; 8():53. PubMed ID: 17311676
    [Abstract] [Full Text] [Related]

  • 6. High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.
    Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.
    J Med Genet; 2008 Jun 20; 45(6):355-61. PubMed ID: 18285425
    [Abstract] [Full Text] [Related]

  • 7. Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
    Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, Drouot N, Le Meur N, Gilbert-Du-Ssardier B, Joly-Hélas G, Moirot H, Rossi A, Tosi M, Frébourg T.
    Eur J Hum Genet; 2006 Sep 20; 14(9):1009-17. PubMed ID: 16773131
    [Abstract] [Full Text] [Related]

  • 8. Detection of hemizygous deletions in genomic DNA from leukaemia specimens for the diagnosis of patients.
    Kees UR, Terry PA, Ford J, Everett J, Murch A, de Klerk N, Baker DL.
    Leuk Res; 2005 Feb 20; 29(2):165-71. PubMed ID: 15607365
    [Abstract] [Full Text] [Related]

  • 9. Quantitative analysis of chimerism after allogeneic stem cell transplantation by real-time polymerase chain reaction with single nucleotide polymorphisms, standard tandem repeats, and Y-chromosome-specific sequences.
    Koldehoff M, Steckel NK, Hlinka M, Beelen DW, Elmaagacli AH.
    Am J Hematol; 2006 Oct 20; 81(10):735-46. PubMed ID: 16838323
    [Abstract] [Full Text] [Related]

  • 10. Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia.
    Braude I, Vukovic B, Prasad M, Marrano P, Turley S, Barber D, Zielenska M, Squire JA.
    BMC Genomics; 2006 Jun 06; 7():138. PubMed ID: 16756668
    [Abstract] [Full Text] [Related]

  • 11. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
    Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.
    Am J Med Genet A; 2007 Dec 15; 143A(24):2924-30. PubMed ID: 18000985
    [Abstract] [Full Text] [Related]

  • 12. Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.
    de Bustos C, Díaz de Ståhl T, Piotrowski A, Mantripragada KK, Buckley PG, Darai E, Hansson CM, Grigelionis G, Menzel U, Dumanski JP.
    Genomics; 2006 Aug 15; 88(2):152-62. PubMed ID: 16713171
    [Abstract] [Full Text] [Related]

  • 13. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
    Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM.
    J Med Genet; 2005 Feb 15; 42(2):121-8. PubMed ID: 15689449
    [Abstract] [Full Text] [Related]

  • 14. Determination of genomic copy number with quantitative microsphere hybridization.
    Newkirk HL, Rogan PK, Miralles M, Knoll JH.
    Hum Mutat; 2006 Apr 15; 27(4):376-86. PubMed ID: 16541397
    [Abstract] [Full Text] [Related]

  • 15. Microduplication 22q11.2: a new chromosomal syndrome.
    Portnoï MF.
    Eur J Med Genet; 2009 Apr 15; 52(2-3):88-93. PubMed ID: 19254783
    [Abstract] [Full Text] [Related]

  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 17. SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.
    Frigerio M, Passeri E, de Filippis T, Rusconi D, Valaperta R, Carminati M, Donnangelo A, Costa E, Persani L, Finelli P, Corbetta S.
    BMC Med Genet; 2011 May 05; 12():61. PubMed ID: 21545739
    [Abstract] [Full Text] [Related]

  • 18. [Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases].
    Xu ZF, Yi L, Mo XM, Hu Y, Wang DJ, Zhu RF, Jiang YZ, Wu X, Wu Z, Shen L, Zhang Y, Zhong XL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun 05; 23(3):250-5. PubMed ID: 16767657
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 38(9):1038-42. PubMed ID: 16906162
    [Abstract] [Full Text] [Related]

  • 20. [Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].
    Eirís-Puñal J, Iglesias-Meleiro JM, Blanco-Barca MO, Fuster-Siebert M, Barros-Angueira F, Ansede A, Castro-Gago M.
    Rev Neurol; 2006 Sep 05; 37(7):601-7. PubMed ID: 14582013
    [Abstract] [Full Text] [Related]

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