BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

378 related articles for article (PubMed ID: 23668869)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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; 46(7):425-30. PubMed ID: 19366998
    [TBL] [Abstract][Full Text] [Related]  

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

  • 7. 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]  

  • 8. Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.
    Mao B; Chen S; Chen X; Yu X; Zhai X; Yang T; Li L; Wang Z; Zhao X; Zhang X
    BMC Med Genet; 2018 Jun; 19(1):101. PubMed ID: 29914388
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
    Sabbagh A; Pasmant E; Imbard A; Luscan A; Soares M; Blanché H; Laurendeau I; Ferkal S; Vidaud M; Pinson S; Bellanné-Chantelot C; Vidaud D; Parfait B; Wolkenstein P
    Hum Mutat; 2013 Nov; 34(11):1510-8. PubMed ID: 23913538
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. NF1 gene analysis based on DHPLC.
    De Luca A; Buccino A; Gianni D; Mangino M; Giustini S; Richetta A; Divona L; Calvieri S; Mingarelli R; Dallapiccola B
    Hum Mutat; 2003 Feb; 21(2):171-2. PubMed ID: 12552569
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
    Kang E; Kim YM; Seo GH; Oh A; Yoon HM; Ra YS; Kim EK; Kim H; Heo SH; Kim GH; Osborn MJ; Tolar J; Yoo HW; Lee BH
    J Hum Genet; 2020 Jan; 65(2):79-89. PubMed ID: 31776437
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
    JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
    Nyström AM; Ekvall S; Allanson J; Edeby C; Elinder M; Holmström G; Bondeson ML; Annerén G
    Clin Genet; 2009 Dec; 76(6):524-34. PubMed ID: 19845691
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 19.