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 *

249 related articles for article (PubMed ID: 29390993)

  • 21. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
    Trump N; McTague A; Brittain H; Papandreou A; Meyer E; Ngoh A; Palmer R; Morrogh D; Boustred C; Hurst JA; Jenkins L; Kurian MA; Scott RH
    J Med Genet; 2016 May; 53(5):310-7. PubMed ID: 26993267
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
    Castellotti B; Ragona F; Freri E; Messina G; Magri S; Previtali R; Solazzi R; Franceschetti S; Taroni F; Canafoglia L; Gellera C; Granata T; DiFrancesco JC
    Epilepsia Open; 2024 Oct; 9(5):1922-1930. PubMed ID: 39215763
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
    Jang SS; Kim SY; Kim H; Hwang H; Chae JH; Kim KJ; Kim JI; Lim BC
    Front Neurol; 2019; 10():988. PubMed ID: 31572294
    [No Abstract]   [Full Text] [Related]  

  • 24. Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.
    Baer S; Schalk A; Miguet M; Schaefer É; El Chehadeh S; Ginglinger E; de Saint Martin A; Abi Wardé MT; Laugel V; de Feraudy Y; Gauer L; Hirsch E; Boulay C; Bansept C; Bolocan A; Kitadinis I; Gouronc A; Gérard B; Piton A; Scheidecker S
    Pediatr Neurol; 2024 Oct; 159():16-25. PubMed ID: 39094250
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Broadening the scope of multigene panel analysis for adult epilepsy patients.
    Lee S; Kang MK; So KH; Jang R; Shin YW; Jang SS; Yoon JG; Kim S; Kim M; Chu K; Lee SK; Kim KJ; Baek ST; Lim BC; Moon J
    Epilepsia Open; 2024 Aug; 9(4):1538-1549. PubMed ID: 38946282
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
    Koh HY; Smith L; Wiltrout KN; Podury A; Chourasia N; D'Gama AM; Park M; Knight D; Sexton EL; Koh JJ; Oby B; Pinsky R; Shao DD; French CE; Shao W; Rockowitz S; Sliz P; Zhang B; Mahida S; Moufawad El Achkar C; Yuskaitis CJ; Olson HE; Sheidley BR; Poduri AH;
    JAMA Netw Open; 2023 Jul; 6(7):e2324380. PubMed ID: 37471090
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.
    Ko A; Youn SE; Kim SH; Lee JS; Kim S; Choi JR; Kim HD; Lee ST; Kang HC
    Epilepsy Res; 2018 Mar; 141():48-55. PubMed ID: 29455050
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.
    Baudhuin LM; Lagerstedt SA; Klee EW; Fadra N; Oglesbee D; Ferber MJ
    J Mol Diagn; 2015 Jul; 17(4):456-61. PubMed ID: 25960255
    [TBL] [Abstract][Full Text] [Related]  

  • 29. High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
    Charouf D; Miller D; Haddad L; White FA; Boustany RM; Obeid M
    Int J Mol Sci; 2024 Sep; 25(17):. PubMed ID: 39273593
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
    Hu P; Qiao F; Wang Y; Meng L; Ji X; Luo C; Xu T; Zhou R; Zhang J; Yu B; Wang L; Wang T; Pan Q; Ma D; Liang D; Xu Z
    Ultrasound Obstet Gynecol; 2018 Aug; 52(2):205-211. PubMed ID: 29536580
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
    Yang M; Xu B; Wang J; Zhang Z; Xie H; Wang H; Hu T; Liu S
    Epilepsy Res; 2021 Feb; 170():106552. PubMed ID: 33486335
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
    Hoelz H; Herdl C; Gerstl L; Tacke M; Vill K; von Stuelpnagel C; Rost I; Hoertnagel K; Abicht A; Hollizeck S; Larsen LHG; Borggraefe I
    Clin EEG Neurosci; 2020 Jan; 51(1):61-69. PubMed ID: 31554424
    [No Abstract]   [Full Text] [Related]  

  • 33. Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
    Zou D; Wang L; Liao J; Xiao H; Duan J; Zhang T; Li J; Yin Z; Zhou J; Yan H; Huang Y; Zhan N; Yang Y; Ye J; Chen F; Zhu S; Wen F; Guo J
    Brain; 2021 Dec; 144(12):3623-3634. PubMed ID: 34145886
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.
    Blazekovic A; Gotovac Jercic K; Meglaj S; Duranovic V; Prpic I; Lozic B; Malenica M; Markovic S; Lujic L; Petelin Gadze Z; Juraski RG; Barišic N; Baric I; Borovecki F
    Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011376
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
    Mercimek-Mahmutoglu S; Patel J; Cordeiro D; Hewson S; Callen D; Donner EJ; Hahn CD; Kannu P; Kobayashi J; Minassian BA; Moharir M; Siriwardena K; Weiss SK; Weksberg R; Snead OC
    Epilepsia; 2015 May; 56(5):707-16. PubMed ID: 25818041
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.
    Willimsky EK; Munzig A; Mayer K; Biskup S; Abicht A; Hoertnagel K; Voss HV; Klein HG; Rost I; Larsen LHG; Dahl HA; Hoelz H; Stuelpnagel CV; Borggraefe I
    Neuropediatrics; 2021 Apr; 52(2):92-97. PubMed ID: 33086385
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
    Wang Y; Du X; Bin R; Yu S; Xia Z; Zheng G; Zhong J; Zhang Y; Jiang YH; Wang Y
    Sci Rep; 2017 Jan; 7():40319. PubMed ID: 28074849
    [TBL] [Abstract][Full Text] [Related]  

  • 38. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
    Stosser MB; Lindy AS; Butler E; Retterer K; Piccirillo-Stosser CM; Richard G; McKnight DA
    Genet Med; 2018 Apr; 20(4):403-410. PubMed ID: 28837158
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
    Boonsimma P; Ittiwut C; Kamolvisit W; Ittiwut R; Chetruengchai W; Phokaew C; Srichonthong C; Poonmaksatit S; Desudchit T; Suphapeetiporn K; Shotelersuk V
    Eur J Hum Genet; 2023 Feb; 31(2):179-187. PubMed ID: 36198807
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
    Mei D; Darra F; Barba C; Marini C; Fontana E; Chiti L; Parrini E; Dalla Bernardina B; Guerrini R
    Epilepsia; 2014 Nov; 55(11):1748-53. PubMed ID: 25266480
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.