BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

761 related articles for article (PubMed ID: 25182393)

  • 1. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
    Abramowicz A; Gos M
    Dev Period Med; 2014; 18(3):297-306. PubMed ID: 25182393
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
    Van-Gils J; Harambat J; Jubert C; Vidaud D; Llanas B; Perel Y; Lacombe D; Goizet C
    Eur J Med Genet; 2014; 57(11-12):639-42. PubMed ID: 25234363
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
    Tong HX; Li M; Zhang Y; Zhu J; Lu WQ
    Genet Mol Res; 2012 Aug; 11(3):2972-8. PubMed ID: 22869071
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
    Brems H; Legius E
    Keio J Med; 2013; 62(4):107-12. PubMed ID: 24334617
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
    Hirata Y; Brems H; Suzuki M; Kanamori M; Okada M; Morita R; Llano-Rivas I; Ose T; Messiaen L; Legius E; Yoshimura A
    J Biol Chem; 2016 Feb; 291(7):3124-34. PubMed ID: 26635368
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Buteică E; Stoicescu I; Burada F; Stănoiu B
    Rom J Morphol Embryol; 2007; 48(3):243-8. PubMed ID: 17914490
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E; Legius E
    Acta Derm Venereol; 2020 Mar; 100(7):adv00093. PubMed ID: 32147744
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
    Peltonen S; Kallionpää RA; Peltonen J
    Exp Dermatol; 2017 Jul; 26(7):645-648. PubMed ID: 27622733
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
    Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
    Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.
    Führer S; Tollinger M; Dunzendorfer-Matt T
    J Mol Biol; 2019 Sep; 431(19):3889-3899. PubMed ID: 31401120
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Genetics of type 1 neurofibromatosis].
    Garavelli L; Donadio A; Sigorini M; Grassi L; Banchini G
    Acta Biomed Ateneo Parmense; 2000; 71(3-4):89-95. PubMed ID: 11424621
    [TBL] [Abstract][Full Text] [Related]  

  • 12. NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1.
    Su SY; Zhou X; Pang XM; Chen CY; Li SH; Liu JL
    Genet Mol Res; 2016 Apr; 15(2):. PubMed ID: 27173220
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications.
    Gottfried ON; Viskochil DH; Couldwell WT
    Neurosurg Focus; 2010 Jan; 28(1):E8. PubMed ID: 20043723
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
    Calì F; Chiavetta V; Ruggeri G; Piccione M; Selicorni A; Palazzo D; Bonsignore M; Cereda A; Elia M; Failla P; Figura MG; Fiumara A; Maitz S; Luana Mandarà GM; Mattina T; Ragalmuto A; Romano C; Ruggieri M; Salluzzo R; Saporoso A; Schepis C; Sorge G; Spanò M; Tortorella G; Romano V
    Eur J Med Genet; 2017 Feb; 60(2):93-99. PubMed ID: 27838393
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [From gene to disease; neurofibromatosis type 1].
    de Goede-Bolder A; Cnossen MH; Dooijes D; van den Ouweland AM; Niermeijer MF
    Ned Tijdschr Geneeskd; 2001 Sep; 145(36):1736-8. PubMed ID: 11572174
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.
    Klose A; Ahmadian MR; Schuelke M; Scheffzek K; Hoffmeyer S; Gewies A; Schmitz F; Kaufmann D; Peters H; Wittinghofer A; Nürnberg P
    Hum Mol Genet; 1998 Aug; 7(8):1261-8. PubMed ID: 9668168
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Molecular genetic diagnosis of neurofibromatosis type I].
    Polgár N; Komlósi K; Hadzsiev K; Illés T; Melegh B
    Orv Hetil; 2011 Mar; 152(11):415-9. PubMed ID: 21362601
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A porcine model of neurofibromatosis type 1 that mimics the human disease.
    White KA; Swier VJ; Cain JT; Kohlmeyer JL; Meyerholz DK; Tanas MR; Uthoff J; Hammond E; Li H; Rohret FA; Goeken A; Chan CH; Leidinger MR; Umesalma S; Wallace MR; Dodd RD; Panzer K; Tang AH; Darbro BW; Moutal A; Cai S; Li W; Bellampalli SS; Khanna R; Rogers CS; Sieren JC; Quelle DE; Weimer JM
    JCI Insight; 2018 Jun; 3(12):. PubMed ID: 29925695
    [TBL] [Abstract][Full Text] [Related]  

  • 20. NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.
    Park HJ; Lee SJ; Sohn YB; Jin HS; Han JH; Kim YB; Yim H; Jeong SY
    Int J Oncol; 2013 Feb; 42(2):657-66. PubMed ID: 23292448
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 39.