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

329 related items for PubMed ID: 9195229

  • 21. 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]

  • 22. Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.
    Oguzkan S, Terzi YK, Cinbis M, Anlar B, Aysun S, Ayter S.
    Cancer Genet Cytogenet; 2006 Mar 26; 165(2):167-71. PubMed ID: 16527612
    [Abstract] [Full Text] [Related]

  • 23. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
    Sabol Z, Kipke-Sabol L.
    Lijec Vjesn; 2005 Mar 26; 127(11-12):303-11. PubMed ID: 16583938
    [Abstract] [Full Text] [Related]

  • 24. [From gene to disease; neurofibromatosis type 1].
    de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF.
    Ned Tijdschr Geneeskd; 2001 Sep 08; 145(36):1736-8. PubMed ID: 11572174
    [Abstract] [Full Text] [Related]

  • 25. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
    De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B.
    Hum Mutat; 2004 Jun 08; 23(6):629. PubMed ID: 15146469
    [Abstract] [Full Text] [Related]

  • 26. Analysis of mutations of neurofibromatosis type 1 gene and N-ras gene in acute myelogenous leukemia.
    Lee YY, Kim WS, Bang YJ, Jung CW, Park S, Yoon WJ, Cho KS, Kim IS, Jung TJ, Choi IY.
    Stem Cells; 1995 Sep 08; 13(5):556-63. PubMed ID: 8528106
    [Abstract] [Full Text] [Related]

  • 27. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
    Colman SD, Williams CA, Wallace MR.
    Nat Genet; 1995 Sep 08; 11(1):90-2. PubMed ID: 7550323
    [Abstract] [Full Text] [Related]

  • 28. 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 08; 28(6):599-612. PubMed ID: 17311297
    [Abstract] [Full Text] [Related]

  • 29. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 08; 49(4):318-45. PubMed ID: 12553167
    [Abstract] [Full Text] [Related]

  • 30. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
    Espinosa-Parrilla Y, Morell M, Borrell M, Souto JC, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 2000 Nov 08; 15(5):463-73. PubMed ID: 10790208
    [Abstract] [Full Text] [Related]

  • 31. A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
    Park KC, Choi HO, Park KH, Kim KH, Eun HC.
    J Hum Genet; 2000 Nov 08; 45(2):84-5. PubMed ID: 10721668
    [Abstract] [Full Text] [Related]

  • 32. Neurofibromatosis: novel and recurrent mutations in Turkish patients.
    Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S.
    Pediatr Neurol; 2007 Dec 08; 37(6):421-5. PubMed ID: 18021924
    [Abstract] [Full Text] [Related]

  • 33. Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.
    Hatta N, Horiuchi T, Fujita S.
    Biochem Biophys Res Commun; 1994 Feb 28; 199(1):207-12. PubMed ID: 8123014
    [Abstract] [Full Text] [Related]

  • 34. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.
    Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G.
    Hum Mutat; 2003 Dec 28; 22(6):423-7. PubMed ID: 14635100
    [Abstract] [Full Text] [Related]

  • 35. High sensitivity of detection of TP53 somatic mutations by fluorescence-assisted mismatch analysis.
    Tessitore A, Di Rocco ZC, Cannita K, Ricevuto E, Toniato E, Tosi M, Ficorella C, Frati L, Gulino A, Marchetti P, Martinotti S.
    Genes Chromosomes Cancer; 2002 Sep 28; 35(1):86-91. PubMed ID: 12203794
    [Abstract] [Full Text] [Related]

  • 36. An efficient and reliable multiplex PCR-SSCP mutation analysis test applied to the human E-cadherin gene.
    Berx G, Nollet F, Strumane K, van Roy F.
    Hum Mutat; 1997 Sep 28; 9(6):567-74. PubMed ID: 9195232
    [Abstract] [Full Text] [Related]

  • 37. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
    Liechti-Gallati S, Schneider V, Neeser D, Kraemer R.
    Eur J Hum Genet; 1999 Jul 28; 7(5):590-8. PubMed ID: 10439967
    [Abstract] [Full Text] [Related]

  • 38. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
    Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.
    J Med Genet; 2009 Jul 28; 46(7):425-30. PubMed ID: 19366998
    [Abstract] [Full Text] [Related]

  • 39. Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
    Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartolo C, Mendell JR.
    Hum Mutat; 1993 Jul 28; 2(3):192-5. PubMed ID: 8364587
    [Abstract] [Full Text] [Related]

  • 40. Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
    Gasparini P, D'Agruma L, Pio de Cillis G, Balestrazzi P, Mingarelli R, Zelante L.
    Hum Genet; 1996 Apr 28; 97(4):492-5. PubMed ID: 8834249
    [Abstract] [Full Text] [Related]

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