BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

268 related articles for article (PubMed ID: 31347283)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.
    Xiao H; Yuan L; Xu H; Yang Z; Huang F; Song Z; Yang Y; Zeng C; Deng H
    J Mol Neurosci; 2018 Aug; 65(4):557-563. PubMed ID: 30046999
    [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. Identification of a Novel
    Xu G; Li M; Niu Y; Huang X; Li Y; Tang G; Long S; Zhao H; Jiang H
    Biomed Res Int; 2019; 2019():2721357. PubMed ID: 31886188
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
    Prasad BCM; Chandra VVR; Sudarsan A; Kumar PS; Sarma PVGK
    J Clin Neurosci; 2018 Jul; 53():62-68. PubMed ID: 29680440
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
    Yao R; Yu T; Xu Y; Yu L; Wang J; Wang X; Wang J; Shen Y
    Genes (Basel); 2019 Oct; 10(11):. PubMed ID: 31717729
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.
    Yang L; Fu J; Cheng J; Zhou B; Chen M; Anuchapreeda S; Fu J
    BMC Med Genomics; 2023 Apr; 16(1):85. PubMed ID: 37095468
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
    Trevisson E; Morbidoni V; Forzan M; Daolio C; Fumini V; Parrozzani R; Cassina M; Midena E; Salviati L; Clementi M
    Mol Genet Genomic Med; 2019 May; 7(5):e616. PubMed ID: 30843352
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
    Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
    Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1.
    Yang L; Fu J; Cheng J; Zhou B; Liu X; Anuchapreeda S; Fu J
    Mol Biol Rep; 2023 Feb; 50(2):1117-1123. PubMed ID: 36401065
    [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 14.