BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 37806041)

  • 1. Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.
    Bildirici Y; Kocaaga A; Karademir-Arslan CN; Yimenicioglu S
    Pediatr Neurol; 2023 Dec; 149():69-74. PubMed ID: 37806041
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.
    Laczmańska I; Szczepaniak M; Jakubiak A; Stembalska A
    Adv Clin Exp Med; 2014; 23(4):517-21. PubMed ID: 25166435
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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. Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi.
    Hida T; Idogawa M; Okura M; Sugita S; Sugawara T; Sasaki Y; Tokino T; Yamashita T; Uhara H
    J Dermatol; 2020 Jun; 47(6):658-662. PubMed ID: 32246533
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. [Phenotypic and genetic features in neurofibromatosis type 1 in children].
    Duat Rodríguez A; Martos Moreno GÁ; Martín Santo-Domingo Y; Hernández Martín A; Espejo-Saavedra Roca JM; Ruiz-Falcó Rojas ML; Argente J
    An Pediatr (Barc); 2015 Sep; 83(3):173-82. PubMed ID: 25541118
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
    Kokkinou E; Roka K; Alexopoulos A; Tsina E; Nikas I; Krallis P; Thanopoulou I; Nasi L; Makrygianni E; Tsoutsou E; Kosma K; Tsipi M; Tzetis M; Frysira H; Kattamis A; Pons R
    Postgrad Med; 2019 Sep; 131(7):445-452. PubMed ID: 31443616
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.
    Mudau MM; Dillon B; Smal C; Feben C; Honey E; Carstens N; Krause A
    Front Genet; 2024; 15():1331278. PubMed ID: 38596211
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel
    Gjorgjievska M; Bozhinovski G; Sukarova-Angelovska E; Kocova M; Kanzoska LM; Plaseska-Karanfilska D
    Balkan Med J; 2023 Jul; 40(4):252-261. PubMed ID: 37073110
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [Managing children with neurofibromatosis type 1: what should we look for?].
    Martins CL; Monteiro JP; Farias A; Fernandes R; Fonseca MJ
    Acta Med Port; 2007; 20(5):393-400. PubMed ID: 18282435
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Neurofibromatosis type 1 and associated clinical abnormalities in 27 children].
    Syrbe S; Eberle K; Strenge S; Bernhard MK; Herbertz S; Bierbach U; Hirsch W; Froster UG; Kiess W; Merkenschlager A
    Klin Padiatr; 2007; 219(6):326-32. PubMed ID: 18183640
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
    Sabol Z; Kipke-Sabol L
    Lijec Vjesn; 2005; 127(11-12):303-11. PubMed ID: 16583938
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.