BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 22207399)

  • 1. 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; 28(5):721-7. PubMed ID: 22207399
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
    Yimenicioğlu S; Yakut A; Karaer K; Zenker M; Ekici A; Carman KB
    Childs Nerv Syst; 2012 Dec; 28(12):2181-3. PubMed ID: 22965773
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
    Estivill X; Lázaro C; Casals T; Ravella A
    Hum Genet; 1991 Dec; 88(2):185-8. PubMed ID: 1757093
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
    Upadhyaya M; Shen M; Cherryson A; Farnham J; Maynard J; Huson SM; Harper PS
    Hum Mol Genet; 1992 Dec; 1(9):735-40. PubMed ID: 1302608
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 67(4):421-3. PubMed ID: 8837715
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.
    Okumura A; Ozaki M; Niida Y
    Brain Dev; 2015 Aug; 37(7):677-89. PubMed ID: 25480383
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.
    Cai SP; Fan N; Chen J; Xia ZL; Wang Y; Zhou XM; Yin Y; Wen TL; Xia QJ; Liu XY; Wang HY
    Genet Mol Res; 2014 Jul; 13(3):5395-404. PubMed ID: 25078596
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Monozygotic twins discordant for neurofibromatosis 1.
    Kaplan L; Foster R; Shen Y; Parry DM; McMaster ML; O'Leary MC; Gusella JF
    Am J Med Genet A; 2010 Mar; 152A(3):601-6. PubMed ID: 20186797
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.
    Kebudi R; Tuncer S; Upadhyaya M; Peksayar G; Spurlock G; Yazici H
    Pediatr Blood Cancer; 2008 Mar; 50(3):713-5. PubMed ID: 17514731
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
    Gabriele AL; Ruggieri M; Patitucci A; Magariello A; Conforti FL; Mazzei R; Muglia M; Ungaro C; Di Palma G; Citrigno L; Sproviero W; Gambardella A; Quattrone A
    Childs Nerv Syst; 2011 Apr; 27(4):635-8. PubMed ID: 20927530
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two independent mutations in a family with neurofibromatosis type 1 (NF1).
    Klose A; Peters H; Hoffmeyer S; Buske A; Lüder A; Hess D; Lehmann R; Nürnberg P; Tinschert S
    Am J Med Genet; 1999 Mar; 83(1):6-12. PubMed ID: 10076878
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
    Esposito T; Piluso G; Saracino D; Uccello R; Schettino C; Dato C; Capaldo G; Giugliano T; Varriale B; Paolisso G; Di Iorio G; Melone MA
    J Neurochem; 2015 Dec; 135(6):1123-8. PubMed ID: 26478990
    [TBL] [Abstract][Full Text] [Related]  

  • 18. NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
    Imbard A; Pasmant E; Sabbagh A; Luscan A; Soares M; Goussard P; Blanché H; Laurendeau I; Ferkal S; Vidaud M; Pinson S; Bellanne-Chantelot C; Vidaud D; Wolkenstein P; ; Parfait B
    J Hum Genet; 2015 Apr; 60(4):221-4. PubMed ID: 25631097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.
    Ainsworth PJ; Rodenhiser DI; Costa MT
    Hum Genet; 1993 Mar; 91(2):151-6. PubMed ID: 8385067
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
    Messiaen L; Callens T; De Paepe A; Craen M; Mortier G
    Hum Genet; 1997 Nov; 101(1):75-80. PubMed ID: 9385374
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.