These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

332 related items for PubMed ID: 11292340

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L.
    Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
    [Abstract] [Full Text] [Related]

  • 3. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
    Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C.
    Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
    [Abstract] [Full Text] [Related]

  • 4. RT-PCR splicing analysis of the NF1 open reading frame.
    Thomson SA, Wallace MR.
    Hum Genet; 2002 May; 110(5):495-502. PubMed ID: 12073021
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.
    Wimmer K, Eckart M, Stadler PF, Rehder H, Fonatsch C.
    Hum Mutat; 2000 Jul; 16(1):90-1. PubMed ID: 10874316
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
    Horn D, Robinson PN, Böddrich A, Buske A, Tinschert S, Nürnberg P.
    Electrophoresis; 1996 Oct; 17(10):1559-63. PubMed ID: 8957181
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.
    Raponi M, Upadhyaya M, Baralle D.
    Hum Mutat; 2006 Mar; 27(3):294-5. PubMed ID: 16470740
    [Abstract] [Full Text] [Related]

  • 16. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
    Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.
    Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
    Abernathy CR, Colman SD, Kousseff BG, Wallace MR.
    Hum Mutat; 1994 Nov; 3(4):347-52. PubMed ID: 8081387
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. The effect of disease-associated HRPT2 mutations on splicing.
    Hahn MA, McDonnell J, Marsh DJ.
    J Endocrinol; 2009 Jun; 201(3):387-96. PubMed ID: 19332451
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 17.