BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 35701389)

  • 21. Case Series of Early
    Gowda VK; Amoghimath R; Battina M; Shivappa SK; Benakappa N
    J Pediatr Neurosci; 2021; 16(3):212-217. PubMed ID: 36160609
    [TBL] [Abstract][Full Text] [Related]  

  • 22. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
    Kobayashi Y; Tohyama J; Kato M; Akasaka N; Magara S; Kawashima H; Ohashi T; Shiraishi H; Nakashima M; Saitsu H; Matsumoto N
    Brain Dev; 2016 Mar; 38(3):285-92. PubMed ID: 26482601
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
    Olson HE; Kelly M; LaCoursiere CM; Pinsky R; Tambunan D; Shain C; Ramgopal S; Takeoka M; Libenson MH; Julich K; Loddenkemper T; Marsh ED; Segal D; Koh S; Salman MS; Paciorkowski AR; Yang E; Bergin AM; Sheidley BR; Poduri A
    Ann Neurol; 2017 Mar; 81(3):419-429. PubMed ID: 28133863
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.
    Yuskaitis CJ; Ruzhnikov MRZ; Howell KB; Allen IE; Kapur K; Dlugos DJ; Scheffer IE; Poduri A; Sherr EH
    Pediatr Neurol; 2018 Oct; 87():48-56. PubMed ID: 30174244
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E
    Neurology; 2021 Mar; 96(13):e1770-e1782. PubMed ID: 33568551
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
    Nagarajan B; Gowda VK; Yoganathan S; Sharawat IK; Srivastava K; Vora N; Badheka R; Danda S; Kalane U; Kaur A; Madaan P; Mehta S; Negi S; Panda PK; Rajadhyaksha S; Saini AG; Saini L; Shah S; Srinivasan VM; Suthar R; Thomas M; Vyas S; Sankhyan N; Sahu JK
    Epilepsia Open; 2023 Dec; 8(4):1383-1404. PubMed ID: 37583270
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
    Hewson S; Puka K; Mercimek-Mahmutoglu S
    Am J Med Genet A; 2017 Aug; 173(8):2226-2230. PubMed ID: 28602030
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
    Epilepsy Phenome/Genome Project Epi4K Consortium
    Ann Neurol; 2015 Aug; 78(2):323-8. PubMed ID: 26068938
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
    Dimassi S; Labalme A; Ville D; Calender A; Mignot C; Boutry-Kryza N; de Bellescize J; Rivier-Ringenbach C; Bourel-Ponchel E; Cheillan D; Simonet T; Maincent K; Rossi M; Till M; Mougou-Zerelli S; Edery P; Saad A; Heron D; des Portes V; Sanlaville D; Lesca G
    Clin Genet; 2016 Feb; 89(2):198-204. PubMed ID: 26138355
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
    Ware TL; Huskins SR; Grinton BE; Liu YC; Bennett MF; Harvey M; McMahon J; Andreopoulos-Malikotsinas D; Bahlo M; Howell KB; Hildebrand MS; Damiano JA; Rosenfeld A; Mackay MT; Mandelstam S; Leventer RJ; Harvey AS; Freeman JL; Scheffer IE; Jones DL; Berkovic SF
    Epilepsia Open; 2019 Sep; 4(3):504-510. PubMed ID: 31440733
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
    Musante L; Costa P; Zanus C; Faletra F; Murru FM; Bianco AM; La Bianca M; Ragusa G; Athanasakis E; d'Adamo AP; Carrozzi M; Gasparini P
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328054
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
    Allen NM; Conroy J; Shahwan A; Lynch B; Correa RG; Pena SD; McCreary D; Magalhães TR; Ennis S; Lynch SA; King MD
    Epilepsia; 2016 Jan; 57(1):e12-7. PubMed ID: 26648591
    [TBL] [Abstract][Full Text] [Related]  

  • 35. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
    Tran Mau-Them F; Guibaud L; Duplomb L; Keren B; Lindstrom K; Marey I; Mochel F; van den Boogaard MJ; Oegema R; Nava C; Masurel A; Jouan T; Jansen FE; Au M; Chen AH; Cho M; Duffourd Y; Lozier E; Konovalov F; Sharkov A; Korostelev S; Urteaga B; Dickson P; Vera M; Martínez-Agosto JA; Begemann A; Zweier M; Schmitt-Mechelke T; Rauch A; Philippe C; van Gassen K; Nelson S; Graham JM; Friedman J; Faivre L; Lin HJ; Thauvin-Robinet C; Vitobello A
    Genet Med; 2019 Apr; 21(4):1008-1014. PubMed ID: 30166628
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
    Gürsoy S; Erçal D
    J Child Neurol; 2016 Mar; 31(4):523-32. PubMed ID: 26271793
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
    Johnstone DL; Nguyen TTM; Zambonin J; Kernohan KD; St-Denis A; Baratang NV; Hartley T; Geraghty MT; Richer J; Majewski J; Bareke E; Guerin A; Pendziwiat M; Pena LDM; Braakman HMH; Gripp KW; Edmondson AC; He M; Spillmann RC; Eklund EA; Bayat A; McMillan HJ; Boycott KM; Campeau PM
    J Inherit Metab Dis; 2020 Nov; 43(6):1321-1332. PubMed ID: 32588908
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
    Burgess R; Wang S; McTague A; Boysen KE; Yang X; Zeng Q; Myers KA; Rochtus A; Trivisano M; Gill D; ; Sadleir LG; Specchio N; Guerrini R; Marini C; Zhang YH; Mefford HC; Kurian MA; Poduri AH; Scheffer IE
    Ann Neurol; 2019 Dec; 86(6):821-831. PubMed ID: 31618474
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
    Kluckova D; Kolnikova M; Medova V; Bognar C; Foltan T; Svecova L; Gnip A; Kadasi L; Soltysova A; Ficek A
    Epilepsy Res; 2021 Oct; 176():106699. PubMed ID: 34229227
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
    ;
    Am J Hum Genet; 2019 Aug; 105(2):267-282. PubMed ID: 31327507
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.