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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

306 related articles for article (PubMed ID: 16937374)

  • 1. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
    Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C
    Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
    Brinckmann A; Mischung C; Bässmann I; Kühnisch J; Schuelke M; Tinschert S; Nürnberg P
    Electrophoresis; 2007 Dec; 28(23):4295-301. PubMed ID: 18041031
    [TBL] [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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
    Fang LJ; Simard MJ; Vidaud D; Assouline B; Lemieux B; Vidaud M; Chabot B; Thirion JP
    J Mol Biol; 2001 Apr; 307(5):1261-70. PubMed ID: 11292340
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 22(6):423-7. PubMed ID: 14635100
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
    Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
    Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 23(6):629. PubMed ID: 15146469
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 15(6):541-55. PubMed ID: 10862084
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
    Origone P; De Luca A; Bellini C; Buccino A; Mingarelli R; Costabel S; La Rosa C; Garrè C; Coviello DA; Ajmar F; Dallapiccola B; Bonioli E
    Hum Mutat; 2002 Jul; 20(1):74-5. PubMed ID: 12112660
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.
    Serra E; Ars E; Ravella A; Sánchez A; Puig S; Rosenbaum T; Estivill X; Lázaro C
    Hum Genet; 2001 May; 108(5):416-29. PubMed ID: 11409870
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.
    Hernández-Imaz E; Campos B; Rodríguez-Álvarez FJ; Abad O; Melean G; Gardenyes J; Martín Y; Hernández-Chico C
    Clin Genet; 2013 May; 83(5):462-6. PubMed ID: 22925204
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease.
    Kimura N; Watanabe T; Fukase M; Wakita A; Noshiro T; Kimura I
    Mod Pathol; 2002 Mar; 15(3):183-8. PubMed ID: 11904334
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia.
    Sakamoto A; Oda Y; Oshiro Y; Tamiya S; Iwamoto Y; Tsuneyoshi M
    Hum Pathol; 2001 Nov; 32(11):1245-51. PubMed ID: 11727265
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
    Wimmer K; Yao S; Claes K; Kehrer-Sawatzki H; Tinschert S; De Raedt T; Legius E; Callens T; Beiglböck H; Maertens O; Messiaen L
    Genes Chromosomes Cancer; 2006 Mar; 45(3):265-76. PubMed ID: 16283621
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of NF1 mutations in both alleles of a dermal neurofibroma.
    Sawada S; Florell S; Purandare SM; Ota M; Stephens K; Viskochil D
    Nat Genet; 1996 Sep; 14(1):110-2. PubMed ID: 8782831
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 9(6):548-54. PubMed ID: 9195229
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
    Terzi YK; Oguzkan-Balci S; Anlar B; Aysun S; Guran S; Ayter S
    Genet Couns; 2009; 20(2):195-202. PubMed ID: 19650418
    [TBL] [Abstract][Full Text] [Related]  

  • 20. S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas.
    Tucker T; Riccardi VM; Brown C; Fee J; Sutcliffe M; Vielkind J; Wechsler J; Wolkenstein P; Friedman JM
    J Neurosci Res; 2011 Sep; 89(9):1451-60. PubMed ID: 21674567
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.