BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 34596808)

  • 1. Novel germinal mutation in NF1: case report.
    Arredondo Montero J; López Arbues S; Bronte Anaut M; Morales Garofalo L; García F
    Mol Biol Rep; 2021 Nov; 48(11):7617-7620. PubMed ID: 34596808
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
    Esposito T; Piluso G; Saracino D; Uccello R; Schettino C; Dato C; Capaldo G; Giugliano T; Varriale B; Paolisso G; Di Iorio G; Melone MA
    J Neurochem; 2015 Dec; 135(6):1123-8. PubMed ID: 26478990
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.
    Zhang T; Jia C; Dong Z; Li C; Lu W
    Mol Genet Genomic Med; 2021 May; 9(5):e1643. PubMed ID: 33764694
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neurofibromatosis type 1.
    Cimino PJ; Gutmann DH
    Handb Clin Neurol; 2018; 148():799-811. PubMed ID: 29478615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
    Anastasaki C; Woo AS; Messiaen LM; Gutmann DH
    Hum Mol Genet; 2015 Jun; 24(12):3518-28. PubMed ID: 25788518
    [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. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
    Ratner N; Miller SJ
    Nat Rev Cancer; 2015 May; 15(5):290-301. PubMed ID: 25877329
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1.
    Petrak B; Bendova S; Seeman T; Klein T; Lisy J; Zatrapa T; Marikova T
    Neuro Endocrinol Lett; 2007 Dec; 28(6):734-8. PubMed ID: 18063929
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Gene therapy strategies and prospects for neurofibromatosis type 1].
    Zheng T; Zhu B; Wang Z; Li Q
    Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi; 2024 Jan; 38(1):1-8. PubMed ID: 38225833
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.
    Fu Y; Zhang JQ; Jiang CL; Wang HY
    J Dermatol; 2018 Aug; 45(8):986-988. PubMed ID: 29952103
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
    Smith RB; Solem EP; Metz EC; Wheeler FC; Phillips JA; Yenamandra A
    Am J Med Genet A; 2021 Apr; 185(4):1222-1227. PubMed ID: 33415784
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Rare NF1 Gene Mutation in Chinese Patient with Neurofibromatosis Type 1 and Anaplastic Astrocytoma.
    Zhou S; Zhu Y; Xu J; Tao R; Yuan S
    World Neurosurg; 2020 Feb; 134():434-437. PubMed ID: 31678437
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neurofibromatosis type 1 (NF1): diagnosis and management.
    Ferner RE; Gutmann DH
    Handb Clin Neurol; 2013; 115():939-55. PubMed ID: 23931823
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.
    Trevisson E; Forzan M; Salviati L; Clementi M
    Clin Genet; 2014 Apr; 85(4):386-9. PubMed ID: 23621909
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
    Jeong SY; Park SJ; Kim HJ
    J Korean Med Sci; 2006 Feb; 21(1):107-12. PubMed ID: 16479075
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Orthopaedic Manifestations of Neurofibromatosis Type I.
    Evans TJ; Wang X; Binitie O
    J Am Acad Orthop Surg; 2022 Dec; 30(23):e1495-e1503. PubMed ID: 36400059
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.