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

148 related items for PubMed ID: 9544853

  • 1. Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.
    Klose A, Robinson N, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H.
    Hum Genet; 1998 Mar; 102(3):367-71. PubMed ID: 9544853
    [Abstract] [Full Text] [Related]

  • 2. Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
    Hudson J, Wu CL, Tassabehji M, Summers EM, Simon S, Super M, Donnai D, Thakker N.
    Hum Mutat; 1997 Mar; 9(4):366-7. PubMed ID: 9101300
    [No Abstract] [Full Text] [Related]

  • 3. New evidence for a mutation hotspot in exon 37 of the NF1 gene.
    Böddrich A, Robinson PN, Schülke M, Buske A, Tinschert S, Nürnberg P.
    Hum Mutat; 1997 Mar; 9(4):374-7. PubMed ID: 9101303
    [No Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
    Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD.
    Hum Mutat; 2000 Oct; 15(6):541-55. PubMed ID: 10862084
    [Abstract] [Full Text] [Related]

  • 6. A novel and very peculiar HincII polymorphism in the 5' region of the human neurofibromatosis type 1 (NF1) gene.
    Fang LJ, Feingold J, Lemieux B, Thirion JP.
    Ann Genet; 1999 Oct; 42(4):231-3. PubMed ID: 10674164
    [Abstract] [Full Text] [Related]

  • 7. Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).
    Valero MC, Velasco E, Moreno F, Hernández-Chico C.
    Hum Mol Genet; 1994 Apr; 3(4):639-41. PubMed ID: 8069310
    [Abstract] [Full Text] [Related]

  • 8. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
    Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P.
    Am J Hum Genet; 2000 Mar; 66(3):790-818. PubMed ID: 10712197
    [Abstract] [Full Text] [Related]

  • 9. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
    Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P.
    Hum Mutat; 2000 Sep; 16(3):274-5. PubMed ID: 10980545
    [Abstract] [Full Text] [Related]

  • 10. A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.
    Shen MH, Upadhyaya M.
    Hum Genet; 1993 Oct; 92(4):410-2. PubMed ID: 8225323
    [Abstract] [Full Text] [Related]

  • 11. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
    Maynard J, Krawczak M, Upadhyaya M.
    Hum Genet; 1997 May; 99(5):674-6. PubMed ID: 9150739
    [Abstract] [Full Text] [Related]

  • 12. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
    Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN.
    Hum Genet; 1997 Jan; 99(1):88-92. PubMed ID: 9003501
    [Abstract] [Full Text] [Related]

  • 13. A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.
    Purandare SM, Davidson HR, Lanyon WG, Connor JM.
    Hum Mutat; 1994 Jan; 3(1):76-8. PubMed ID: 8118468
    [No Abstract] [Full Text] [Related]

  • 14. Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.
    Shen MH, Harper PS, Upadhyaya M.
    Hum Mol Genet; 1993 Nov; 2(11):1861-4. PubMed ID: 7904209
    [Abstract] [Full Text] [Related]

  • 15. Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.
    Upadhyaya M, Osborn M, Maynard J, Harper P.
    Am J Med Genet; 1996 Jul 26; 67(4):421-3. PubMed ID: 8837715
    [Abstract] [Full Text] [Related]

  • 16. Screening for mutation site on the type I neurofibromatosis gene in a family.
    Lv M, Zhao W, Yan L, Chen L, Cui K, Gao J, Yu F, Li S.
    Childs Nerv Syst; 2012 May 26; 28(5):721-7. PubMed ID: 22207399
    [Abstract] [Full Text] [Related]

  • 17. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
    Jang MA, Kim YE, Kim SK, Lee MK, Kim JW, Ki CS.
    J Hum Genet; 2016 Aug 26; 61(8):705-9. PubMed ID: 27074763
    [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 Aug 26; 3(4):347-52. PubMed ID: 8081387
    [Abstract] [Full Text] [Related]

  • 19. Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.
    Peters H, Lüder A, Harder A, Schuelke M, Tinschert S.
    Hum Mutat; 1999 Aug 26; 13(3):258. PubMed ID: 10090487
    [Abstract] [Full Text] [Related]

  • 20. NF1 mutation analysis using a combined heteroduplex/SSCP approach.
    Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR.
    Hum Mutat; 1997 Aug 26; 9(6):548-54. PubMed ID: 9195229
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.