BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 34252879)

  • 1. Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort.
    Ding Y; Zhou Y; Yu L; Zhang L; Zhou S; Wang Y; Wang J
    Seizure; 2021 Oct; 91():273-277. PubMed ID: 34252879
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
    Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
    Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
    [TBL] [Abstract][Full Text] [Related]  

  • 3.
    He J; Zhou W; Shi J; Lin J; Zhang B; Sun Z
    Genet Test Mol Biomarkers; 2020 Jan; 24(1):1-5. PubMed ID: 31855466
    [No Abstract]   [Full Text] [Related]  

  • 4. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
    Rosengren T; Nanhoe S; de Almeida LGD; Schönewolf-Greulich B; Larsen LJ; Hey CAB; Dunø M; Ek J; Risom L; Nellist M; Møller LB
    Sci Rep; 2020 Jun; 10(1):9909. PubMed ID: 32555378
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
    Klonowska K; Giannikou K; Grevelink JM; Boeszoermenyi B; Thorner AR; Herbert ZT; Afrin A; Treichel AM; Hamieh L; Kotulska K; Jozwiak S; Moss J; Darling TN; Kwiatkowski DJ
    Am J Hum Genet; 2023 Jun; 110(6):979-988. PubMed ID: 37141891
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
    Meng Y; Yu C; Chen M; Yu X; Sun M; Yan H; Zhao W; Yu S
    J Hum Genet; 2021 Mar; 66(3):227-236. PubMed ID: 32917966
    [TBL] [Abstract][Full Text] [Related]  

  • 7. First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
    Reyna-Fabián ME; Hernández-Martínez NL; Alcántara-Ortigoza MA; Ayala-Sumuano JT; Enríquez-Flores S; Velázquez-Aragón JA; Varela-Echavarría A; Todd-Quiñones CG; González-Del Angel A
    Sci Rep; 2020 Apr; 10(1):6589. PubMed ID: 32313033
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Effect of Gene Mutation on Seizures in Surgery for Tuberous Sclerosis Complex.
    Chivukula S; Modiri O; Kashanian A; Babayan D; Ibrahim GM; Weil AG; Tu A; Wu JY; Mathern GW; Fallah A
    Can J Neurol Sci; 2021 May; 48(3):327-334. PubMed ID: 32854808
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
    Peron A; Vignoli A; Briola F; Morenghi E; Tansini L; Alfano RM; Bulfamante G; Terraneo S; Ghelma F; Banderali G; Viskochil DH; Carey JC; Canevini MP;
    Eur J Med Genet; 2018 Jul; 61(7):403-410. PubMed ID: 29432982
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
    Ng SY; Luk HM; Hau EW; Cheng SS; Yu KP; Ho S; Mok MT; Lo IF
    Eur J Med Genet; 2022 Oct; 65(10):104573. PubMed ID: 35918040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
    Ryu S; Kang HC; Lee SC; Byeon SH; Kim SS; Lee CS
    Yonsei Med J; 2023 Feb; 64(2):133-138. PubMed ID: 36719021
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
    Avgeris S; Fostira F; Vagena A; Ninios Y; Delimitsou A; Vodicka R; Vrtel R; Youroukos S; Stravopodis DJ; Vlassi M; Astrinidis A; Yannoukakos D; Voutsinas GE
    Sci Rep; 2017 Dec; 7(1):16697. PubMed ID: 29196670
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
    Demir S; Yalçıntepe S; Atlı E; Yalçın Y; İkbal Atlı E; Eker D; Karal Y; Gürkan H
    Balkan Med J; 2021 Nov; 38(6):341-347. PubMed ID: 34860161
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
    Robinson J; Uzun O; Loh NR; Harris IR; Woolley TE; Harwood AJ; Gardner JF; Syed YA
    BMC Med; 2022 Apr; 20(1):123. PubMed ID: 35440050
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
    Ogórek B; Hamieh L; Hulshof HM; Lasseter K; Klonowska K; Kuijf H; Moavero R; Hertzberg C; Weschke B; Riney K; Feucht M; Scholl T; Krsek P; Nabbout R; Jansen AC; Benova B; Aronica E; Lagae L; Curatolo P; Borkowska J; Sadowski K; Domańska-Pakieła D; Janson S; Kozlowski P; Urbanska M; Jaworski J; Jozwiak S; Jansen FE; Kotulska K; ; Kwiatkowski DJ
    Genet Med; 2020 Sep; 22(9):1489-1497. PubMed ID: 32461669
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
    Farach LS; Pearson DA; Woodhouse JP; Schraw JM; Sahin M; Krueger DA; Wu JY; Bebin EM; Lupo PJ; Au KS; Northrup H;
    Pediatr Neurol; 2019 Jul; 96():58-63. PubMed ID: 31005478
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
    Luo C; Zhang Y; Zhang YS; Zhang MX; Ning J; Chen MF; Li Y; Qi L; Zu XB; Li YL; Cai Y
    Orphanet J Rare Dis; 2022 Jul; 17(1):288. PubMed ID: 35870981
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.
    Savini MN; Mingarelli A; Peron A; La Briola F; Cervi F; Alfano RM; Canevini MP; Vignoli A
    Ital J Pediatr; 2020 Mar; 46(1):36. PubMed ID: 32216820
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.
    Lee JS; Lim BC; Chae JH; Hwang YS; Seong MW; Park SS; Kim KJ
    Epileptic Disord; 2014 Dec; 16(4):449-55. PubMed ID: 25498131
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study.
    Ding Y; Wang J; Zhou S; Zhou Y; Zhang L; Yu L; Wang Y
    Front Genet; 2020; 11():204. PubMed ID: 32211034
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.