BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

290 related articles for article (PubMed ID: 34418705)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.
    Terzi YK; Sirin B; Serdaroglu E; Anlar B; Aysun S; Hosgor G; Arslan EA; Ayter S
    Childs Nerv Syst; 2011 Dec; 27(12):2113-6. PubMed ID: 21732117
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
    Castellanos E; Rosas I; Negro A; Gel B; Alibés A; Baena N; Pineda M; Pi G; Pintos G; Salvador H; Lázaro C; Blanco I; Vilageliu L; Brems H; Grinberg D; Legius E; Serra E
    Clin Genet; 2020 Feb; 97(2):264-275. PubMed ID: 31573083
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [Unusual clinical manifestations of type 1 neurofibromatosis].
    Komlósi K; Polgár N; Hadzsiev K; Ottóffy G; Illés T; Dóczi T; Melegh B
    Orv Hetil; 2011 Dec; 152(49):1965-70. PubMed ID: 22106164
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.
    Tsipi M; Poulou M; Fylaktou I; Kosma K; Tsoutsou E; Pons MR; Kokkinou E; Kitsiou-Tzeli S; Fryssira H; Tzetis M
    J Neurol Sci; 2018 Dec; 395():95-105. PubMed ID: 30308447
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
    Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
    EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.
    Legius E; Brems H
    Childs Nerv Syst; 2020 Oct; 36(10):2285-2295. PubMed ID: 32601904
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.