BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 11748857)

  • 1. Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene.
    Fang LJ; Vidaud D; Vidaud M; Thirion JP
    Hum Mutat; 2001 Dec; 18(6):549-50. PubMed ID: 11748857
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype analysis of the NF1 gene in the French Canadians from the Québec population.
    Fang L; Chalhoub N; Li W; Feingold J; Ortenberg J; Lemieux B; Thirion JP
    Am J Med Genet; 2001 Dec; 104(3):189-98. PubMed ID: 11754043
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.
    Rübben A; Bausch B; Nikkels A
    Mol Cancer; 2006 Sep; 5():36. PubMed ID: 16961930
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
    Roehl AC; Cooper DN; Kluwe L; Helbrich A; Wimmer K; Högel J; Mautner VF; Kehrer-Sawatzki H
    Hum Mutat; 2010 Mar; 31(3):325-34. PubMed ID: 20052761
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).
    Upadhyaya M; Kluwe L; Spurlock G; Monem B; Majounie E; Mantripragada K; Ruggieri M; Chuzhanova N; Evans DG; Ferner R; Thomas N; Guha A; Mautner V
    Hum Mutat; 2008 Jan; 29(1):74-82. PubMed ID: 17960768
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.
    De Raedt T; Maertens O; Chmara M; Brems H; Heyns I; Sciot R; Majounie E; Upadhyaya M; De Schepper S; Speleman F; Messiaen L; Vermeesch JR; Legius E
    Genes Chromosomes Cancer; 2006 Oct; 45(10):893-904. PubMed ID: 16830335
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
    Bengesser K; Cooper DN; Steinmann K; Kluwe L; Chuzhanova NA; Wimmer K; Tatagiba M; Tinschert S; Mautner VF; Kehrer-Sawatzki H
    Hum Mutat; 2010 Jun; 31(6):742-51. PubMed ID: 20506354
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.
    Gervasini C; Venturin M; Orzan F; Friso A; Clementi M; Tenconi R; Larizza L; Riva P
    Genomics; 2005 Feb; 85(2):273-9. PubMed ID: 15676286
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 165(2):167-71. PubMed ID: 16527612
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.
    Pasmant E; de Saint-Trivier A; Laurendeau I; Dieux-Coeslier A; Parfait B; Vidaud M; Vidaud D; Bièche I
    Eur J Hum Genet; 2008 Dec; 16(12):1459-66. PubMed ID: 18648396
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deletion of the entire NF1 gene causing distinct manifestations in a family.
    Wu BL; Schneider GH; Korf BR
    Am J Med Genet; 1997 Mar; 69(1):98-101. PubMed ID: 9066892
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
    Mautner VF; Kluwe L; Friedrich RE; Roehl AC; Bammert S; Högel J; Spöri H; Cooper DN; Kehrer-Sawatzki H
    J Med Genet; 2010 Sep; 47(9):623-30. PubMed ID: 20543202
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from café au laitmacules of NF1 patients.
    Eisenbarth I; Assum G; Kaufmann D; Krone W
    Biochem Biophys Res Commun; 1997 Aug; 237(1):138-41. PubMed ID: 9266845
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
    Mantripragada KK; Thuresson AC; Piotrowski A; Díaz de Ståhl T; Menzel U; Grigelionis G; Ferner RE; Griffiths S; Bolund L; Mautner V; Nordling M; Legius E; Vetrie D; Dahl N; Messiaen L; Upadhyaya M; Bruder CE; Dumanski JP
    J Med Genet; 2006 Jan; 43(1):28-38. PubMed ID: 15944227
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.
    Bengesser K; Vogt J; Mussotter T; Mautner VF; Messiaen L; Cooper DN; Kehrer-Sawatzki H
    Hum Mutat; 2014 Feb; 35(2):215-26. PubMed ID: 24186807
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
    Cnossen MH; van der Est MN; Breuning MH; van Asperen CJ; Breslau-Siderius EJ; van der Ploeg AT; de Goede-Bolder A; van den Ouweland AM; Halley DJ; Niermeijer MF
    Hum Mutat; 1997; 9(5):458-64. PubMed ID: 9143927
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.