BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

304 related articles for article (PubMed ID: 27830187)

  • 1. Germline and somatic mutations in the
    Møller RS; Weckhuysen S; Chipaux M; Marsan E; Taly V; Bebin EM; Hiatt SM; Prokop JW; Bowling KM; Mei D; Conti V; de la Grange P; Ferrand-Sorbets S; Dorfmüller G; Lambrecq V; Larsen LH; Leguern E; Guerrini R; Rubboli G; Cooper GM; Baulac S
    Neurol Genet; 2016 Dec; 2(6):e118. PubMed ID: 27830187
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
    Nakashima M; Saitsu H; Takei N; Tohyama J; Kato M; Kitaura H; Shiina M; Shirozu H; Masuda H; Watanabe K; Ohba C; Tsurusaki Y; Miyake N; Zheng Y; Sato T; Takebayashi H; Ogata K; Kameyama S; Kakita A; Matsumoto N
    Ann Neurol; 2015 Sep; 78(3):375-86. PubMed ID: 26018084
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.
    Xu Y; Zhao R; Wang M; Wang XH; Wang Y; Li H; Ma YY; Wu BB; Zhou YF
    Mol Genet Genomic Med; 2022 Dec; 10(12):e2086. PubMed ID: 36342087
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
    Lai D; Gade M; Yang E; Koh HY; Lu J; Walley NM; Buckley AF; Sands TT; Akman CI; Mikati MA; McKhann GM; Goldman JE; Canoll P; Alexander AL; Park KL; Von Allmen GK; Rodziyevska O; Bhattacharjee MB; Lidov HGW; Vogel H; Grant GA; Porter BE; Poduri AH; Crino PB; Heinzen EL
    Brain; 2022 Aug; 145(8):2704-2720. PubMed ID: 35441233
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
    Lim JS; Kim WI; Kang HC; Kim SH; Park AH; Park EK; Cho YW; Kim S; Kim HM; Kim JA; Kim J; Rhee H; Kang SG; Kim HD; Kim D; Kim DS; Lee JH
    Nat Med; 2015 Apr; 21(4):395-400. PubMed ID: 25799227
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
    Ferri L; Menghi V; Licchetta L; Dimartino P; Minardi R; Davì C; Di Vito L; Cifaldi E; Zenesini C; Gozzo F; Pelliccia V; Mariani V; de Spelorzi YCC; Gustincich S; Seri M; Tassi L; Pippucci T; Bisulli F
    Epilepsy Behav; 2024 Apr; 153():109716. PubMed ID: 38508103
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.
    Jha R; Kurup A; Kovilapu UB; Ranjan R; Sondhi V
    Brain Dev; 2022 Feb; 44(2):166-172. PubMed ID: 34756499
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
    Baldassari S; Ribierre T; Marsan E; Adle-Biassette H; Ferrand-Sorbets S; Bulteau C; Dorison N; Fohlen M; Polivka M; Weckhuysen S; Dorfmüller G; Chipaux M; Baulac S
    Acta Neuropathol; 2019 Dec; 138(6):885-900. PubMed ID: 31444548
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.
    Bennett MF; Hildebrand MS; Kayumi S; Corbett MA; Gupta S; Ye Z; Krivanek M; Burgess R; Henry OJ; Damiano JA; Boys A; Gécz J; Bahlo M; Scheffer IE; Berkovic SF
    Neurol Genet; 2022 Feb; 8(1):e652. PubMed ID: 35097204
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
    Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
    JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
    [TBL] [Abstract][Full Text] [Related]  

  • 11.
    Jesus-Ribeiro J; Pereira C; Robalo C; Pereira DJ; Duro D; Ramos F; Freire A; Melo JB
    Oxf Med Case Reports; 2021 May; 2021(5):omab027. PubMed ID: 34055363
    [TBL] [Abstract][Full Text] [Related]  

  • 12. mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
    Krochmalnek E; Accogli A; St-Onge J; Addour-Boudrahem N; Prakash G; Kim SH; Brunette-Clement T; Alhajaj G; Mougharbel L; Bruneau E; Myers KA; Dubeau F; Karamchandani J; Farmer JP; Atkinson J; Hall J; Chantal Poulin C; Rosenblatt B; Lafond-Lapalme J; Weil A; Fallet-Bianco C; Albrecht S; Sonenberg N; Riviere JB; Dudley RW; Srour M
    Neurol Genet; 2023 Dec; 9(6):e200103. PubMed ID: 37900581
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Somatic variants in new candidate genes identified in focal cortical dysplasia type II.
    Zhang Z; Gao K; Liu Q; Zhou J; Li X; Lang N; Liu M; Wang T; Zhang J; Wang H; Dong Y; Ji T; Wang S; Liu X; Jiang Y; Cai L; Wu Y
    Epilepsia; 2020 Apr; 61(4):667-678. PubMed ID: 32216069
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
    Lim JS; Gopalappa R; Kim SH; Ramakrishna S; Lee M; Kim WI; Kim J; Park SM; Lee J; Oh JH; Kim HD; Park CH; Lee JS; Kim S; Kim DS; Han JM; Kang HC; Kim HH; Lee JH
    Am J Hum Genet; 2017 Mar; 100(3):454-472. PubMed ID: 28215400
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.
    Elziny S; Crino PB; Winawer M
    Neurobiol Dis; 2023 Oct; 187():106299. PubMed ID: 37739137
    [TBL] [Abstract][Full Text] [Related]  

  • 16. mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
    Gerasimenko A; Baldassari S; Baulac S
    Neurobiol Dis; 2023 Jun; 182():106144. PubMed ID: 37149062
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Challenge of Somatic Variants in Focal Cortical Dysplasia.
    Jesus-Ribeiro J; Pires LM; Ribeiro IP; Rebelo O; Pereira R; Sales F; Santana I; Freire A; Melo JB
    Innov Clin Neurosci; 2023; 20(10-12):35-39. PubMed ID: 38193103
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.
    Jesus-Ribeiro J; Pires LM; Melo JD; Ribeiro IP; Rebelo O; Sales F; Freire A; Melo JB
    Front Neurosci; 2020; 14():580357. PubMed ID: 33551717
    [No Abstract]   [Full Text] [Related]  

  • 19. The role of somatic mutational events in the pathogenesis of epilepsy.
    Iffland PH; Crino PB
    Curr Opin Neurol; 2019 Apr; 32(2):191-197. PubMed ID: 30762606
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
    Weckhuysen S; Marsan E; Lambrecq V; Marchal C; Morin-Brureau M; An-Gourfinkel I; Baulac M; Fohlen M; Kallay Zetchi C; Seeck M; de la Grange P; Dermaut B; Meurs A; Thomas P; Chassoux F; Leguern E; Picard F; Baulac S
    Epilepsia; 2016 Jun; 57(6):994-1003. PubMed ID: 27173016
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.