BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 35391499)

  • 1. Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
    Deng F; Evans DG; Smith MJ
    Hum Mutat; 2022 Jul; 43(7):919-927. PubMed ID: 35391499
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
    Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
    Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Coexistence of schwannomatosis and glioblastoma in two families.
    Deiller C; Van-Gils J; Zordan C; Tinat J; Loiseau H; Fabre T; Delleci C; Cohen J; Vidaud M; Parfait B; Goizet C
    Eur J Med Genet; 2019 Aug; 62(8):103680. PubMed ID: 31128261
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
    Kehrer-Sawatzki H; Kluwe L; Friedrich RE; Summerer A; Schäfer E; Wahlländer U; Matthies C; Gugel I; Farschtschi S; Hagel C; Cooper DN; Mautner VF
    Hum Genet; 2018 Jul; 137(6-7):543-552. PubMed ID: 30006736
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
    Perez-Becerril C; Evans DG; Smith MJ
    Hum Mutat; 2021 Oct; 42(10):1187-1207. PubMed ID: 34273915
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Expanding the mutational spectrum of LZTR1 in schwannomatosis.
    Paganini I; Chang VY; Capone GL; Vitte J; Benelli M; Barbetti L; Sestini R; Trevisson E; Hulsebos TJ; Giovannini M; Nelson SF; Papi L
    Eur J Hum Genet; 2015 Jul; 23(7):963-8. PubMed ID: 25335493
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
    Smith MJ; Isidor B; Beetz C; Williams SG; Bhaskar SS; Richer W; O'Sullivan J; Anderson B; Daly SB; Urquhart JE; Fryer A; Rustad CF; Mills SJ; Samii A; du Plessis D; Halliday D; Barbarot S; Bourdeaut F; Newman WG; Evans DG
    Neurology; 2015 Jan; 84(2):141-7. PubMed ID: 25480913
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pain correlates with germline mutation in schwannomatosis.
    Jordan JT; Smith MJ; Walker JA; Erdin S; Talkowski ME; Merker VL; Ramesh V; Cai W; Harris GJ; Bredella MA; Seijo M; Suuberg A; Gusella JF; Plotkin SR
    Medicine (Baltimore); 2018 Feb; 97(5):e9717. PubMed ID: 29384852
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
    Kehrer-Sawatzki H; Farschtschi S; Mautner VF; Cooper DN
    Hum Genet; 2017 Feb; 136(2):129-148. PubMed ID: 27921248
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation.
    Mehta GU; Feldman MJ; Wang H; Ding D; Chittiboina P
    J Neurosurg; 2016 Dec; 125(6):1469-1471. PubMed ID: 26848914
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Simultaneous Detection of
    Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
    Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
    Piotrowski A; Koczkowska M; Poplawski AB; Bartoszewski R; Króliczewski J; Mieczkowska A; Gomes A; Crowley MR; Crossman DK; Chen Y; Lao P; Serra E; Llach MC; Castellanos E; Messiaen LM
    Hum Mutat; 2022 Jan; 43(1):74-84. PubMed ID: 34747535
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sporadic vestibular schwannoma: a molecular testing summary.
    Sadler KV; Bowers NL; Hartley C; Smith PT; Tobi S; Wallace AJ; King A; Lloyd SKW; Rutherford S; Pathmanaban ON; Hammerbeck-Ward C; Freeman S; Stapleton E; Taylor A; Shaw A; Halliday D; Smith MJ; Evans DG
    J Med Genet; 2021 Apr; 58(4):227-233. PubMed ID: 32576656
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening of potential novel candidate genes in schwannomatosis patients.
    Perez-Becerril C; Wallace AJ; Schlecht H; Bowers NL; Smith PT; Gokhale C; Eaton H; Charlton C; Robinson R; Charlton RS; Evans DG; Smith MJ
    Hum Mutat; 2022 Oct; 43(10):1368-1376. PubMed ID: 35723634
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Schwannomatosis: a genetic and epidemiological study.
    Evans DG; Bowers NL; Tobi S; Hartley C; Wallace AJ; King AT; Lloyd SKW; Rutherford SA; Hammerbeck-Ward C; Pathmanaban ON; Freeman SR; Ealing J; Kellett M; Laitt R; Thomas O; Halliday D; Ferner R; Taylor A; Duff C; Harkness EF; Smith MJ
    J Neurol Neurosurg Psychiatry; 2018 Nov; 89(11):1215-1219. PubMed ID: 29909380
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
    Caltabiano R; Magro G; Polizzi A; Praticò AD; Ortensi A; D'Orazi V; Panunzi A; Milone P; Maiolino L; Nicita F; Capone GL; Sestini R; Paganini I; Muglia M; Cavallaro S; Lanzafame S; Papi L; Ruggieri M
    Childs Nerv Syst; 2017 Jun; 33(6):933-940. PubMed ID: 28365909
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
    Farschtschi S; Mautner VF; Pham M; Nguyen R; Kehrer-Sawatzki H; Hutter S; Friedrich RE; Schulz A; Morrison H; Jones DT; Bendszus M; Bäumer P
    Ann Neurol; 2016 Oct; 80(4):625-8. PubMed ID: 27472264
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
    Smith MJ; Bowers NL; Bulman M; Gokhale C; Wallace AJ; King AT; Lloyd SK; Rutherford SA; Hammerbeck-Ward CL; Freeman SR; Evans DG
    Neurology; 2017 Jan; 88(1):87-92. PubMed ID: 27856782
    [TBL] [Abstract][Full Text] [Related]  

  • 20. LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.
    Muthusamy K; Mrugala MM; Bendok BR; Dhamija R
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1560. PubMed ID: 33269527
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.