BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 31893083)

  • 1. Whole exome sequencing reveals a de novo missense variant in
    Kaur S; Van Bergen NJ; Gold WA; Eggers S; Lunke S; White SM; Ellaway C; Christodoulou J
    Clin Case Rep; 2019 Dec; 7(12):2476-2482. PubMed ID: 31893083
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of novel genetic causes of Rett syndrome-like phenotypes.
    Lopes F; Barbosa M; Ameur A; Soares G; de Sá J; Dias AI; Oliveira G; Cabral P; Temudo T; Calado E; Cruz IF; Vieira JP; Oliveira R; Esteves S; Sauer S; Jonasson I; Syvänen AC; Gyllensten U; Pinto D; Maciel P
    J Med Genet; 2016 Mar; 53(3):190-9. PubMed ID: 26740508
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pathogenic Variants in
    Cogliati F; Giorgini V; Masciadri M; Bonati MT; Marchi M; Cracco I; Gentilini D; Peron A; Savini MN; Spaccini L; Scelsa B; Maitz S; Veneselli E; Prato G; Pintaudi M; Moroni I; Vignoli A; Larizza L; Russo S
    Int J Mol Sci; 2019 Jul; 20(15):. PubMed ID: 31344879
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
    Iwama K; Mizuguchi T; Takeshita E; Nakagawa E; Okazaki T; Nomura Y; Iijima Y; Kajiura I; Sugai K; Saito T; Sasaki M; Yuge K; Saikusa T; Okamoto N; Takahashi S; Amamoto M; Tomita I; Kumada S; Anzai Y; Hoshino K; Fattal-Valevski A; Shiroma N; Ohfu M; Moroto M; Tanda K; Nakagawa T; Sakakibara T; Nabatame S; Matsuo M; Yamamoto A; Yukishita S; Inoue K; Waga C; Nakamura Y; Watanabe S; Ohba C; Sengoku T; Fujita A; Mitsuhashi S; Miyatake S; Takata A; Miyake N; Ogata K; Ito S; Saitsu H; Matsuishi T; Goto YI; Matsumoto N
    J Med Genet; 2019 Jun; 56(6):396-407. PubMed ID: 30842224
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
    Allou L; Julia S; Amsallem D; El Chehadeh S; Lambert L; Thevenon J; Duffourd Y; Saunier A; Bouquet P; Pere S; Moustaïne A; Ruaud L; Roth V; Jonveaux P; Philippe C
    Clin Genet; 2017 Mar; 91(3):431-440. PubMed ID: 27062609
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder.
    Kaneko M; Rosser T; Raca G
    Eur J Med Genet; 2021 Jan; 64(1):104121. PubMed ID: 33307280
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.
    Yoon JA; Yoo Y; Lee JS; Kim YM; Shin YB
    Mol Genet Genomic Med; 2019 Mar; 7(3):e532. PubMed ID: 30569584
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
    Hara M; Ohba C; Yamashita Y; Saitsu H; Matsumoto N; Matsuishi T
    Am J Med Genet A; 2015 Jul; 167(7):1593-6. PubMed ID: 25931020
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
    Nakajima J; Okamoto N; Tohyama J; Kato M; Arai H; Funahashi O; Tsurusaki Y; Nakashima M; Kawashima H; Saitsu H; Matsumoto N; Miyake N
    Clin Genet; 2015 Apr; 87(4):356-61. PubMed ID: 24697219
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
    Wang J; Zhang Q; Chen Y; Yu S; Wu X; Bao X
    Mol Genet Genomic Med; 2019 Nov; 7(11):e968. PubMed ID: 31512412
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SATB2-associated syndrome presenting with Rett-like phenotypes.
    Lee JS; Yoo Y; Lim BC; Kim KJ; Choi M; Chae JH
    Clin Genet; 2016 Jun; 89(6):728-32. PubMed ID: 26596517
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.
    Gold WA; Christodoulou J
    Front Cell Neurosci; 2015; 9():266. PubMed ID: 26236194
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
    Lam WW; Millichap JJ; Soares DC; Chin R; McLellan A; FitzPatrick DR; Elmslie F; Lees MM; Schaefer GB; ; Abbott CM
    Mol Genet Genomic Med; 2016 Jul; 4(4):465-74. PubMed ID: 27441201
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
    Politano D; Gana S; Pezzotti E; Berardinelli A; Pasca L; Carmen Barbero V; Pichiecchio A; Maria Valente E; Errichiello E
    Brain Dev; 2023 Mar; 45(3):179-184. PubMed ID: 36446697
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.
    De Rinaldis M; Giorda R; Trabacca A
    Brain Dev; 2020 Jan; 42(1):77-82. PubMed ID: 31477274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation.
    Long K; Wang H; Song Z; Yin X; Wang Y
    Epilepsy Behav; 2020 Apr; 105():106955. PubMed ID: 32062104
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
    Zhang Q; Wang J; Li J; Bao X; Zhao Y; Zhang X; Wei L; Wu X
    BMC Med Genet; 2017 Aug; 18(1):96. PubMed ID: 28851325
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
    Olson HE; Tambunan D; LaCoursiere C; Goldenberg M; Pinsky R; Martin E; Ho E; Khwaja O; Kaufmann WE; Poduri A
    Am J Med Genet A; 2015 Sep; 167A(9):2017-25. PubMed ID: 25914188
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
    Shah J; Patel H; Jain D; Sheth F; Sheth H
    BMC Neurol; 2021 Dec; 21(1):469. PubMed ID: 34856927
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
    Wang J; Zhang Q; Chen Y; Yu S; Wu X; Bao X; Wen Y
    BMC Med Genet; 2018 Oct; 19(1):191. PubMed ID: 30376817
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.