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 *

432 related articles for article (PubMed ID: 31395010)

  • 1. 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]  

  • 2. 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]  

  • 3. SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
    Kim HJ; Kim M; Jang S; Cho JS; Kim SY; Cho A; Kim H; Lim BC; Chae JH; Choi J; Kim KJ; Kim W
    Am J Med Genet A; 2024 Aug; 194(8):e63606. PubMed ID: 38563110
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Behavioural and neurodevelopmental characteristics of SYNGAP1.
    Bednarczuk N; Housby H; Lee IO; Consortium I; Skuse D; Wolstencroft J
    J Neurodev Disord; 2024 Aug; 16(1):46. PubMed ID: 39148034
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes].
    Liu H; Yang S; Li J; Xie H; Chen X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):25-31. PubMed ID: 38171555
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.
    Kilinc M; Creson T; Rojas C; Aceti M; Ellegood J; Vaissiere T; Lerch JP; Rumbaugh G
    Mol Cell Neurosci; 2018 Sep; 91():140-150. PubMed ID: 29580901
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    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]  

  • 11. Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.
    Aceti M; Creson TK; Vaissiere T; Rojas C; Huang WC; Wang YX; Petralia RS; Page DT; Miller CA; Rumbaugh G
    Biol Psychiatry; 2015 May; 77(9):805-15. PubMed ID: 25444158
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14.
    Llamosas N; Arora V; Vij R; Kilinc M; Bijoch L; Rojas C; Reich A; Sridharan B; Willems E; Piper DR; Scampavia L; Spicer TP; Miller CA; Holder JL; Rumbaugh G
    J Neurosci; 2020 Oct; 40(41):7980-7994. PubMed ID: 32887745
    [No Abstract]   [Full Text] [Related]  

  • 15. SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
    von Stülpnagel C; Funke C; Haberl C; Hörtnagel K; Jüngling J; Weber YG; Staudt M; Kluger G
    Neuropediatrics; 2015 Aug; 46(4):287-91. PubMed ID: 26110312
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. [Clinical characteristics and gene analysis of SYNGAP1-related epilepsy in children].
    Tian XJ; Fang F; Ding CH; Ren XT; Wang X; Wang XF; Lyu JL; Jin H; Han TL; Deng J
    Zhonghua Er Ke Za Zhi; 2021 Dec; 59(12):1059-1064. PubMed ID: 34856666
    [No Abstract]   [Full Text] [Related]  

  • 19. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
    Holder JL; Quach MM
    Epilepsia; 2016 Oct; 57(10):1651-1659. PubMed ID: 27554343
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SYNGAP1-DEE: A visual sensitive epilepsy.
    Lo Barco T; Kaminska A; Solazzi R; Cancés C; Barcia G; Chemaly N; Fontana E; Desguerre I; Canafoglia L; Hachon Le Camus C; Losito E; Villard L; Eisermann M; Dalla Bernardina B; Villeneuve N; Nabbout R
    Clin Neurophysiol; 2021 Apr; 132(4):841-850. PubMed ID: 33639450
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.