BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

363 related articles for article (PubMed ID: 34080803)

  • 1. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
    N Abdel-Aziz N; Y El-Kamah G; A Khairat R; R Mohamed H; Z Gad Y; El-Ghor AM; Amr KS
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1631. PubMed ID: 34080803
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
    Banerjee S; Lei D; Liang S; Yang L; Liu S; Wei Z; Tang JP
    Oncotarget; 2017 Jun; 8(24):39695-39702. PubMed ID: 27980226
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
    Corsello G; Antona V; Serra G; Zara F; Giambrone C; Lagalla L; Piccione M; Piro E
    Ital J Pediatr; 2018 Apr; 44(1):45. PubMed ID: 29618358
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
    Ece Solmaz A; Isik E; Atik T; Ozkinay F; Onay H
    Clin Neurol Neurosurg; 2021 Sep; 208():106884. PubMed ID: 34418705
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
    Nemethova M; Bolcekova A; Ilencikova D; Durovcikova D; Hlinkova K; Hlavata A; Kovacs L; Kadasi L; Zatkova A
    Ann Hum Genet; 2013 Sep; 77(5):364-79. PubMed ID: 23758643
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
    Alkindy A; Chuzhanova N; Kini U; Cooper DN; Upadhyaya M
    Hum Genomics; 2012 Aug; 6(1):12. PubMed ID: 23244495
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients.
    Güneş N; Yeşil G; Geyik F; Kasap B; Celkan T; Kebudi R; Tüysüz B
    Ann Hum Genet; 2021 Sep; 85(5):155-165. PubMed ID: 33877690
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.
    Wang W; Qin W; Ge H; Kong X; Xie C; Tang Y; Li M
    Mol Biol Rep; 2019 Aug; 46(4):4349-4359. PubMed ID: 31201679
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
    Ben-Salem S; Al-Shamsi AM; Ali BR; Al-Gazali L
    Childs Nerv Syst; 2014 Jul; 30(7):1183-9. PubMed ID: 24413922
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
    Yao R; Wang L; Yu Y; Wang J; Shen Y
    J Dermatol; 2016 May; 43(5):537-42. PubMed ID: 26458495
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.
    Chen L; Xue F; Xu J; He J; Fu W; Zhang Z; Kang Q
    Mol Genet Genomic Med; 2019 Sep; 7(9):e904. PubMed ID: 31347283
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
    Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
    Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.
    Du Q; Chen H; Zhou H
    Neurol Sci; 2022 Feb; 43(2):1295-1301. PubMed ID: 34089417
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 19.