BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 34130248)

  • 1. Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome.
    Côté V; Knoth IS; Agbogba K; Vannasing P; Côté L; Major P; Michaud JL; Barlaam F; Lippé S
    Clin Neurophysiol; 2021 Aug; 132(8):1802-1812. PubMed ID: 34130248
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1.
    Côté V; Lalancette È; Knoth IS; Côté L; Agbogba K; Vannasing P; Major P; Barlaam F; Michaud J; Lippé S
    Brain Res; 2021 Jan; 1751():147205. PubMed ID: 33189692
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency.
    Carreño-Muñoz MI; Chattopadhyaya B; Agbogba K; Côté V; Wang S; Lévesque M; Avoli M; Michaud JL; Lippé S; Di Cristo G
    Brain; 2022 Apr; 145(2):754-769. PubMed ID: 34791091
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
    Parker MJ; Fryer AE; Shears DJ; Lachlan KL; McKee SA; Magee AC; Mohammed S; Vasudevan PC; Park SM; Benoit V; Lederer D; Maystadt I; Study D; FitzPatrick DR
    Am J Med Genet A; 2015 Oct; 167A(10):2231-7. PubMed ID: 26079862
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
    Berryer MH; Hamdan FF; Klitten LL; Møller RS; Carmant L; Schwartzentruber J; Patry L; Dobrzeniecka S; Rochefort D; Neugnot-Cerioli M; Lacaille JC; Niu Z; Eng CM; Yang Y; Palardy S; Belhumeur C; Rouleau GA; Tommerup N; Immken L; Beauchamp MH; Patel GS; Majewski J; Tarnopolsky MA; Scheffzek K; Hjalgrim H; Michaud JL; Di Cristo G
    Hum Mutat; 2013 Feb; 34(2):385-94. PubMed ID: 23161826
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
    Verma V; Mandora A; Botre A; Clement JP
    Mol Biol Rep; 2020 Nov; 47(11):9225-9234. PubMed ID: 33090308
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
    Wiltrout K; Brimble E; Poduri A
    Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.
    Weldon M; Kilinc M; Lloyd Holder J; Rumbaugh G
    J Neurodev Disord; 2018 Feb; 10(1):6. PubMed ID: 29402231
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Visual social attention in SYNGAP1-related intellectual disability.
    Wright D; Kenny A; Eley S; McKechanie AG; Stanfield AC
    Autism Res; 2024 Jun; 17(6):1083-1093. PubMed ID: 38698724
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The Behavioral Profile of SYNGAP1-Related Intellectual Disability.
    Wright D; Kenny A; Mizen LAM; McKechanie AG; Stanfield AC
    Am J Intellect Dev Disabil; 2024 May; 129(3):199-214. PubMed ID: 38657965
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description.
    Wright D; Kenny A; Eley S; McKechanie AG; Stanfield AC
    J Neurodev Disord; 2022 Jun; 14(1):34. PubMed ID: 35655128
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.
    von Stülpnagel C; Hartlieb T; Borggräfe I; Coppola A; Gennaro E; Eschermann K; Kiwull L; Kluger F; Krois I; Møller RS; Rössler F; Santulli L; Schwermer C; Wallacher-Scholz B; Zara F; Wolf P; Kluger G
    Seizure; 2019 Feb; 65():131-137. PubMed ID: 30685520
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.
    Agarwal M; Johnston MV; Stafstrom CE
    Int J Dev Neurosci; 2019 Nov; 78():65-76. PubMed ID: 31454529
    [TBL] [Abstract][Full Text] [Related]  

  • 14.
    Vlaskamp DRM; Shaw BJ; Burgess R; Mei D; Montomoli M; Xie H; Myers CT; Bennett MF; XiangWei W; Williams D; Maas SM; Brooks AS; Mancini GMS; van de Laar IMBH; van Hagen JM; Ware TL; Webster RI; Malone S; Berkovic SF; Kalnins RM; Sicca F; Korenke GC; van Ravenswaaij-Arts CMA; Hildebrand MS; Mefford HC; Jiang Y; Guerrini R; Scheffer IE
    Neurology; 2019 Jan; 92(2):e96-e107. PubMed ID: 30541864
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
    Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z
    BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.
    Mir A; Song Y; Lee H; Nadeali Z; Akbarian F; Tabatabaiefar MA
    Lab Med; 2024 Mar; 55(2):204-208. PubMed ID: 37467311
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.
    Pei Y; Li W; Du L; Wei F
    Fetal Pediatr Pathol; 2018 Dec; 37(6):400-403. PubMed ID: 30572772
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
    Meili F; Wei WJ; Sin WC; Meyers WM; Dascalu I; Callaghan DB; Rogic S; Pavlidis P; Haas K
    Am J Hum Genet; 2021 Jan; 108(1):148-162. PubMed ID: 33308442
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
    Kimura Y; Akahira-Azuma M; Harada N; Enomoto Y; Tsurusaki Y; Kurosawa K
    Congenit Anom (Kyoto); 2018 Nov; 58(6):188-190. PubMed ID: 29381230
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
    Jimenez-Gomez A; Niu S; Andujar-Perez F; McQuade EA; Balasa A; Huss D; Coorg R; Quach M; Vinson S; Risen S; Holder JL
    J Neurodev Disord; 2019 Aug; 11(1):18. PubMed ID: 31395010
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.