These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 33067351)

  • 1. Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
    Teranishi Y; Miyawaki S; Hongo H; Dofuku S; Okano A; Takayanagi S; Ota T; Yoshimura J; Qu W; Mitsui J; Nakatomi H; Morishita S; Tsuji S; Saito N
    J Med Genet; 2021 Oct; 58(10):701-711. PubMed ID: 33067351
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
    Evans DG; Hartley CL; Smith PT; King AT; Bowers NL; Tobi S; Wallace AJ; Perry M; Anup R; Lloyd SKW; Rutherford SA; Hammerbeck-Ward C; Pathmanaban ON; Stapleton E; Freeman SR; Kellett M; Halliday D; Parry A; Gair JJ; Axon P; Laitt R; Thomas O; Afridi SK; Obholzer R; ; Duff C; Stivaros SM; Vassallo G; Harkness EF; Smith MJ
    Genet Med; 2020 Jan; 22(1):53-59. PubMed ID: 31273341
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Origins of biallelic inactivation of NF2 in neurofibromatosis type 2.
    Xue L; He W; Zhang Y; Wang Z; Chen H; Chen Z; Zhu W; Liu D; Jia H; Jiang Y; Wang Z; Wu H
    Neuro Oncol; 2022 Jun; 24(6):903-913. PubMed ID: 34918118
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2.
    Ishi Y; Era T; Yuzawa S; Okamoto M; Sawaya R; Motegi H; Yamaguchi S; Terasaka S; Houkin K; Fujimura M
    Am J Med Genet A; 2022 Jun; 188(6):1863-1867. PubMed ID: 35178855
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
    Mohyuddin A; Neary WJ; Wallace A; Wu CL; Purcell S; Reid H; Ramsden RT; Read A; Black G; Evans DG
    J Med Genet; 2002 May; 39(5):315-22. PubMed ID: 12011146
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Application of COLD-PCR for improved detection of NF2 mosaic mutations.
    Paganini I; Mancini I; Baroncelli M; Arena G; Gensini F; Papi L; Sestini R
    J Mol Diagn; 2014 Jul; 16(4):393-9. PubMed ID: 24815379
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
    Louvrier C; Pasmant E; Briand-Suleau A; Cohen J; Nitschké P; Nectoux J; Orhant L; Zordan C; Goizet C; Goutagny S; Lallemand D; Vidaud M; Vidaud D; Kalamarides M; Parfait B
    Neuro Oncol; 2018 Jun; 20(7):917-929. PubMed ID: 29409008
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
    Contini E; Paganini I; Sestini R; Candita L; Capone GL; Barbetti L; Falconi S; Frusconi S; Giotti I; Giuliani C; Torricelli F; Benelli M; Papi L
    PLoS One; 2015; 10(6):e0129099. PubMed ID: 26066488
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.
    Mills JR; Moyer AM; Kipp BR; Poplawski AB; Messiaen LM; Babovic-Vuksanovic D
    Clin Genet; 2018 Jan; 93(1):187-190. PubMed ID: 28737257
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.
    Halliday D; Emmanouil B; Vassallo G; Lascelles K; Nicholson J; Chandratre S; Anand G; Wasik M; Pretorius P; Evans DG; Parry A;
    Clin Genet; 2019 Aug; 96(2):151-162. PubMed ID: 30993672
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.
    Evans DG; Ramsden RT; Shenton A; Gokhale C; Bowers NL; Huson SM; Pichert G; Wallace A
    J Med Genet; 2007 Jul; 44(7):424-8. PubMed ID: 17307835
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Multiple meningiomas: differential involvement of the NF2 gene in children and adults.
    Evans DG; Watson C; King A; Wallace AJ; Baser ME
    J Med Genet; 2005 Jan; 42(1):45-8. PubMed ID: 15635074
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.
    Sestini R; Vivarelli R; Balestri P; Ammannati F; Montali E; Papi L
    Hum Genet; 2000 Oct; 107(4):366-71. PubMed ID: 11129337
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report.
    Yoo SJ; Hwang YS
    Clin Lab; 2020 Nov; 66(11):. PubMed ID: 33180429
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.
    Teranishi Y; Miyawaki S; Nakatomi H; Ohara K; Hongo H; Dofuku S; Okano A; Takayanagi S; Ota T; Yoshimura J; Qu W; Mitsui J; Morishita S; Tsuji S; Saito N
    Sci Rep; 2022 Jun; 12(1):9543. PubMed ID: 35681071
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurofibromatosis type 2 discordance in monozygous twins.
    Amico S; Smith P; Tobi S; Perry M; Wallace A; Evans DG
    Fam Cancer; 2020 Jan; 19(1):37-40. PubMed ID: 31965447
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mosaicism in sporadic neurofibromatosis 2 patients.
    Kluwe L; Mautner VF
    Hum Mol Genet; 1998 Dec; 7(13):2051-5. PubMed ID: 9817921
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
    Hexter A; Jones A; Joe H; Heap L; Smith MJ; Wallace AJ; Halliday D; Parry A; Taylor A; Raymond L; Shaw A; Afridi S; Obholzer R; Axon P; King AT; ; Friedman JM; Evans DG
    J Med Genet; 2015 Oct; 52(10):699-705. PubMed ID: 26275417
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
    Pasmant E; Louvrier C; Luscan A; Cohen J; Laurendeau I; Vidaud M; Vidaud D; Goutagny S; Kalamarides M; Parfait B
    Neurochirurgie; 2018 Nov; 64(5):335-341. PubMed ID: 26073919
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the
    Basenach E; Förster A; Raab P; Alzein S; Schmidt G; Krauss JK; Schlegelberger B; Heidenreich F; Auber B; Hartmann C; Wiese B; Weber RG
    Clin Neuropathol; 2022; 41(4):162-167. PubMed ID: 35445657
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.