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 *

141 related articles for article (PubMed ID: 37353388)

  • 1. Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
    Çapan ÖY; Yapıcı Z; Özbil M; Çağlayan HS
    Seizure; 2024 Mar; 116():51-64. PubMed ID: 37353388
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
    Sedlackova L; Sterbova K; Vlckova M; Seeman P; Zarubova J; Marusic P; Krsek P; Krijtova H; Musilova A; Lassuthova P
    Eur J Paediatr Neurol; 2024 Jan; 48():17-29. PubMed ID: 38008000
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
    Rochtus A; Olson HE; Smith L; Keith LG; El Achkar C; Taylor A; Mahida S; Park M; Kelly M; Shain C; Rockowitz S; Rosen Sheidley B; Poduri A
    Epilepsia; 2020 Feb; 61(2):249-258. PubMed ID: 31957018
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
    Vetri L; Calì F; Saccone S; Vinci M; Chiavetta NV; Carotenuto M; Roccella M; Costanza C; Elia M
    Int J Mol Sci; 2024 Jan; 25(2):. PubMed ID: 38256219
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
    Isik E; Yilmaz S; Atik T; Aktan G; Onay H; Gokben S; Ozkinay F
    Neurol Sci; 2020 Dec; 41(12):3729-3739. PubMed ID: 32705489
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of five novel
    Zeng B; Zhang H; Lu Q; Fu Q; Yan Y; Lu W; Ma P; Feng C; Qin J; Luo L; Yang B; Zou Y; Liu Y
    Front Behav Neurosci; 2023; 17():1272748. PubMed ID: 38025388
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
    Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
    Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.
    Çapan ÖY; Türkdoğan D; Atalay S; Çağlayan HS
    Seizure; 2024 Mar; 116():126-132. PubMed ID: 37977948
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
    Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
    Salinas V; Martínez N; Maturo JP; Rodriguez-Quiroga SA; Zavala L; Medina N; Amartino H; Sfaello I; Agosta G; Serafín EM; Morón DG; Kauffman MA; Vega P
    Eur J Med Genet; 2021 Dec; 64(12):104363. PubMed ID: 34673242
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
    Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
    Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
    Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
    Papuc SM; Abela L; Steindl K; Begemann A; Simmons TL; Schmitt B; Zweier M; Oneda B; Socher E; Crowther LM; Wohlrab G; Gogoll L; Poms M; Seiler M; Papik M; Baldinger R; Baumer A; Asadollahi R; Kroell-Seger J; Schmid R; Iff T; Schmitt-Mechelke T; Otten K; Hackenberg A; Addor MC; Klein A; Azzarello-Burri S; Sticht H; Joset P; Plecko B; Rauch A
    Eur J Hum Genet; 2019 Mar; 27(3):408-421. PubMed ID: 30552426
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
    Elkhateeb N; Issa MY; Elbendary HM; Elnaggar W; Ramadan A; Rafat K; Kamel M; Abdel-Ghafar SF; Amer F; Hassaan HM; Trunzo R; Pereira C; Abdel-Hamid MS; D'Arco F; Bauer P; Bertoli-Avella AM; Girgis M; Gleeson JG; Zaki MS; Selim L
    Clin Genet; 2024 May; 105(5):510-522. PubMed ID: 38221827
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
    Dunn PJ; Maher BH; Albury CL; Stuart S; Sutherland HG; Maksemous N; Benton MC; Smith RA; Haupt LM; Griffiths LR
    Mol Genet Genomics; 2020 May; 295(3):751-763. PubMed ID: 32146541
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.
    Hu C; Liu D; Luo T; Wang Y; Liu Z
    Epileptic Disord; 2022 Apr; 24(2):343-352. PubMed ID: 34859793
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel and de novo mutations in pediatric refractory epilepsy.
    Liu J; Tong L; Song S; Niu Y; Li J; Wu X; Zhang J; Zai CC; Luo F; Wu J; Li H; Wong AHC; Sun R; Liu F; Li B
    Mol Brain; 2018 Sep; 11(1):48. PubMed ID: 30185235
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
    Hamdan FF; Myers CT; Cossette P; Lemay P; Spiegelman D; Laporte AD; Nassif C; Diallo O; Monlong J; Cadieux-Dion M; Dobrzeniecka S; Meloche C; Retterer K; Cho MT; Rosenfeld JA; Bi W; Massicotte C; Miguet M; Brunga L; Regan BM; Mo K; Tam C; Schneider A; Hollingsworth G; ; FitzPatrick DR; Donaldson A; Canham N; Blair E; Kerr B; Fry AE; Thomas RH; Shelagh J; Hurst JA; Brittain H; Blyth M; Lebel RR; Gerkes EH; Davis-Keppen L; Stein Q; Chung WK; Dorison SJ; Benke PJ; Fassi E; Corsten-Janssen N; Kamsteeg EJ; Mau-Them FT; Bruel AL; Verloes A; Õunap K; Wojcik MH; Albert DVF; Venkateswaran S; Ware T; Jones D; Liu YC; Mohammad SS; Bizargity P; Bacino CA; Leuzzi V; Martinelli S; Dallapiccola B; Tartaglia M; Blumkin L; Wierenga KJ; Purcarin G; O'Byrne JJ; Stockler S; Lehman A; Keren B; Nougues MC; Mignot C; Auvin S; Nava C; Hiatt SM; Bebin M; Shao Y; Scaglia F; Lalani SR; Frye RE; Jarjour IT; Jacques S; Boucher RM; Riou E; Srour M; Carmant L; Lortie A; Major P; Diadori P; Dubeau F; D'Anjou G; Bourque G; Berkovic SF; Sadleir LG; Campeau PM; Kibar Z; Lafrenière RG; Girard SL; Mercimek-Mahmutoglu S; Boelman C; Rouleau GA; Scheffer IE; Mefford HC; Andrade DM; Rossignol E; Minassian BA; Michaud JL
    Am J Hum Genet; 2017 Nov; 101(5):664-685. PubMed ID: 29100083
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.