BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 12491944)

  • 1. Detection of NF1 mutations utilizing the protein truncation test (PTT).
    Upadhyaya M; Osborn M; Cooper DN
    Methods Mol Biol; 2003; 217():315-27. PubMed ID: 12491944
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
    Park VM; Pivnick EK
    J Med Genet; 1998 Oct; 35(10):813-20. PubMed ID: 9783703
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Application of the protein truncation test (PTT) for the detection of tuberculosis sclerosis complex type 1 and 2 (TSC1 and TSC2) mutations.
    Mayer K
    Methods Mol Biol; 2003; 217():329-44. PubMed ID: 12491945
    [No Abstract]   [Full Text] [Related]  

  • 5. Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
    Perrin G; Morris MA; Antonarakis SE; Boltshauser E; Hutter P
    Hum Mutat; 1996; 7(2):172-5. PubMed ID: 8829638
    [No Abstract]   [Full Text] [Related]  

  • 6. Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.
    Böddrich A; Griesser J; Horn D; Kaufmann D; Krone W; Nürnberg P
    Biochem Biophys Res Commun; 1995 Sep; 214(3):895-904. PubMed ID: 7575561
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients.
    Wimmer K; Eckart M; Rehder H; Fonatsch C
    Hum Genet; 2000 Mar; 106(3):311-3. PubMed ID: 10798360
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.
    Cai Y; Fan Z; Liu Q; Li J; Du J; Shen Y; Wang S
    J Dermatol Sci; 2005 Aug; 39(2):125-7. PubMed ID: 16005615
    [No Abstract]   [Full Text] [Related]  

  • 9. Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
    Zhu L; Zhang Y; Tong H; Shao M; Gu Y; Du X; Wang P; Shi L; Zhang L; Bi M; Wang X; Zhang G
    Medicine (Baltimore); 2016 Mar; 95(10):e3043. PubMed ID: 26962827
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
    Osborn MJ; Upadhyaya M
    Hum Genet; 1999 Oct; 105(4):327-32. PubMed ID: 10543400
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.
    Terzi YK; Sirin B; Hosgor G; Serdaroglu E; Anlar B; Aysun S; Ayter S
    Childs Nerv Syst; 2012 Jun; 28(6):943-6. PubMed ID: 22159552
    [No Abstract]   [Full Text] [Related]  

  • 14. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
    Ko JM; Sohn YB; Jeong SY; Kim HJ; Messiaen LM
    Pediatr Neurol; 2013 Jun; 48(6):447-53. PubMed ID: 23668869
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
    Xu W; Yang X; Hu X; Li S
    Int J Mol Med; 2014 Jul; 34(1):53-60. PubMed ID: 24789688
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].
    Zhao X; Zhou Q; Cai L; Zhao Z; Zhang L; Wang P; Zhang G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):489-492. PubMed ID: 30098240
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Long RT-PCR of the entire 8.5-kb NF1 open reading frame and mutation detection on agarose gels.
    Martinez JM; Breidenbach HH; Cawthon R
    Genome Res; 1996 Jan; 6(1):58-66. PubMed ID: 8681140
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
    Jeong SY; Park SJ; Kim HJ
    J Korean Med Sci; 2006 Feb; 21(1):107-12. PubMed ID: 16479075
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.