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Journal Abstract Search

319 related items for PubMed ID: 16941003

  • 1. Genome structural variation and sporadic disease traits.
    Lupski JR.
    Nat Genet; 2006 Sep; 38(9):974-6. PubMed ID: 16941003
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Structural variants deconstruct the genome.
    Nat Genet; 2006 Sep; 38(9):959. PubMed ID: 16940994
    [Abstract] [Full Text] [Related]

  • 4. Human genome: patchwork people.
    Check E.
    Nature; 2005 Oct 20; 437(7062):1084-6. PubMed ID: 16237414
    [No Abstract] [Full Text] [Related]

  • 5. Genomic rearrangements and sporadic disease.
    Lupski JR.
    Nat Genet; 2007 Jul 20; 39(7 Suppl):S43-7. PubMed ID: 17597781
    [Abstract] [Full Text] [Related]

  • 6. Introduction to SNPs: discovery of markers for disease.
    Weiner MP, Hudson TJ.
    Biotechniques; 2002 Jun 20; Suppl():4-7, 10, 12-3. PubMed ID: 12083396
    [No Abstract] [Full Text] [Related]

  • 7. [Structural variation in the human genome contributes to variation of traits].
    Barøy T, Misceo D, Frengen E.
    Tidsskr Nor Laegeforen; 2008 Sep 11; 128(17):1951-5. PubMed ID: 18787571
    [Abstract] [Full Text] [Related]

  • 8. Segmental duplications: an 'expanding' role in genomic instability and disease.
    Emanuel BS, Shaikh TH.
    Nat Rev Genet; 2001 Oct 11; 2(10):791-800. PubMed ID: 11584295
    [Abstract] [Full Text] [Related]

  • 9. Major changes in our DNA lead to major changes in our thinking.
    Sebat J.
    Nat Genet; 2007 Jul 11; 39(7 Suppl):S3-5. PubMed ID: 17597778
    [Abstract] [Full Text] [Related]

  • 10. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
    Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C.
    Eur J Med Genet; 2007 Jul 11; 50(2):149-54. PubMed ID: 17223398
    [Abstract] [Full Text] [Related]

  • 11. Structural variation in the human genome.
    Lupski JR.
    N Engl J Med; 2007 Mar 15; 356(11):1169-71. PubMed ID: 17360997
    [No Abstract] [Full Text] [Related]

  • 12. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
    Lupski JR, Stankiewicz P.
    PLoS Genet; 2005 Dec 15; 1(6):e49. PubMed ID: 16444292
    [Abstract] [Full Text] [Related]

  • 13. DNA variation and the future of human genetics.
    Schafer AJ, Hawkins JR.
    Nat Biotechnol; 1998 Jan 15; 16(1):33-9. PubMed ID: 9447590
    [Abstract] [Full Text] [Related]

  • 14. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
    Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW.
    Psychiatr Genet; 2008 Jun 15; 18(3):101-9. PubMed ID: 18496206
    [Abstract] [Full Text] [Related]

  • 15. The challenge of using SNPs in the understanding and treatment of disease.
    Schifreen RS, Storts DR, Buller AM.
    Biotechniques; 2002 Jun 15; Suppl():14-6, 18, 20-1. PubMed ID: 12083392
    [No Abstract] [Full Text] [Related]

  • 16. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.
    Beckmann JS, Estivill X, Antonarakis SE.
    Nat Rev Genet; 2007 Aug 15; 8(8):639-46. PubMed ID: 17637735
    [Abstract] [Full Text] [Related]

  • 17. Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.
    Hollox EJ, Barber JC, Brookes AJ, Armour JA.
    Genome Res; 2008 Nov 15; 18(11):1686-97. PubMed ID: 18974263
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 45(7):432-7. PubMed ID: 18413373
    [Abstract] [Full Text] [Related]

  • 19. Structural variation and its effect on expression.
    Harewood L, Chaignat E, Reymond A.
    Methods Mol Biol; 2012 Jul 15; 838():173-86. PubMed ID: 22228012
    [Abstract] [Full Text] [Related]

  • 20. A simpler tool for finding disease genes and spotting genetic variation.
    Pharmacogenomics; 2002 Jul 15; 3(4):437. PubMed ID: 12164767
    [No Abstract] [Full Text] [Related]

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