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 *

241 related articles for article (PubMed ID: 31056551)

  • 21. Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.
    Chen WL; Mefford HC
    Neurotherapeutics; 2021 Jul; 18(3):1468-1477. PubMed ID: 34532824
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Diverse genetic causes of polymicrogyria with epilepsy.
    Epilepsy Phenome/Genome Project, Epi4K Consortium
    Epilepsia; 2021 Apr; 62(4):973-983. PubMed ID: 33818783
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The contribution of next generation sequencing to epilepsy genetics.
    Møller RS; Dahl HA; Helbig I
    Expert Rev Mol Diagn; 2015; 15(12):1531-8. PubMed ID: 26565596
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
    Trinh J; Kandaswamy KK; Werber M; Weiss MER; Oprea G; Kishore S; Lohmann K; Rolfs A
    J Neurodev Disord; 2019 Jun; 11(1):11. PubMed ID: 31238879
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.
    Zhang L; Li XY; Xu F; Gao L; Wang Z; Wang X; Li X; Liu M; Zhu J; Yao T; Ye J; Qi XH; Wang Y; Zhao G; Wang C;
    Mol Genet Genomic Med; 2023 Nov; 11(11):e2243. PubMed ID: 37489029
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.
    Chow J; Jensen M; Amini H; Hormozdiari F; Penn O; Shifman S; Girirajan S; Hormozdiari F
    Genome Med; 2019 Oct; 11(1):65. PubMed ID: 31653223
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
    Ortega-Moreno L; Giráldez BG; Soto-Insuga V; Losada-Del Pozo R; Rodrigo-Moreno M; Alarcón-Morcillo C; Sánchez-Martín G; Díaz-Gómez E; Guerrero-López R; Serratosa JM;
    PLoS One; 2017; 12(11):e0188978. PubMed ID: 29190809
    [TBL] [Abstract][Full Text] [Related]  

  • 29. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
    Smith L; Singhal N; El Achkar CM; Truglio G; Rosen Sheidley B; Sullivan J; Poduri A
    Epilepsia; 2018 Mar; 59(3):679-689. PubMed ID: 29377098
    [TBL] [Abstract][Full Text] [Related]  

  • 30. High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
    Spataro N; Trujillo-Quintero JP; Manso C; Gabau E; Capdevila N; Martinez-Glez V; Berenguer-Llergo A; Reyes S; Brunet A; Baena N; Guitart M; Ruiz A
    Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36980980
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability.
    Borlot F; de Almeida BI; Combe SL; Andrade DM; Filloux FM; Myers KA
    Epilepsia; 2019 Aug; 60(8):1661-1669. PubMed ID: 31273778
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
    Srivastava S; Love-Nichols JA; Dies KA; Ledbetter DH; Martin CL; Chung WK; Firth HV; Frazier T; Hansen RL; Prock L; Brunner H; Hoang N; Scherer SW; Sahin M; Miller DT;
    Genet Med; 2019 Nov; 21(11):2413-2421. PubMed ID: 31182824
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
    Thevenon J; Duffourd Y; Masurel-Paulet A; Lefebvre M; Feillet F; El Chehadeh-Djebbar S; St-Onge J; Steinmetz A; Huet F; Chouchane M; Darmency-Stamboul V; Callier P; Thauvin-Robinet C; Faivre L; Rivière JB
    Clin Genet; 2016 Jun; 89(6):700-7. PubMed ID: 26757139
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Customized multigene panels in epilepsy: the best things come in small packages.
    Pellacani S; Dosi C; Valvo G; Moro F; Mero S; Sicca F; Santorelli FM
    Neurogenetics; 2020 Jan; 21(1):1-18. PubMed ID: 31834528
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
    MacKay CI; Wong K; Demarest ST; Benke TA; Downs J; Leonard H
    Clin Genet; 2021 Jan; 99(1):157-165. PubMed ID: 33047306
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
    Pode-Shakked B; Barel O; Singer A; Regev M; Poran H; Eliyahu A; Finezilber Y; Segev M; Berkenstadt M; Yonath H; Reznik-Wolf H; Gazit Y; Chorin O; Heimer G; Gabis LV; Tzadok M; Nissenkorn A; Bar-Yosef O; Zohar-Dayan E; Ben-Zeev B; Mor N; Kol N; Nayshool O; Shimshoviz N; Bar-Joseph I; Marek-Yagel D; Javasky E; Einy R; Gal M; Grinshpun-Cohen J; Shohat M; Dominissini D; Raas-Rothschild A; Rechavi G; Pras E; Greenbaum L
    Sci Rep; 2021 Sep; 11(1):19099. PubMed ID: 34580403
    [TBL] [Abstract][Full Text] [Related]  

  • 38. De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.
    Li B; Li K; Tian D; Zhou Q; Xie Y; Fang Z; Wang X; Luo T; Wang Z; Zhang Y; Wang Y; Chen Q; Meng Q; Zhao G; Li J
    J Mol Med (Berl); 2020 Dec; 98(12):1701-1712. PubMed ID: 33047154
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
    Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
    Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
    Zhang Y; Wang T; Wang Y; Xia K; Li J; Sun Z
    Mol Neurobiol; 2021 Aug; 58(8):3863-3873. PubMed ID: 33860439
    [TBL] [Abstract][Full Text] [Related]  

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