BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 37467311)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
    Mir A; Song Y; Lee H; Nadeali Z; Tabatabaiefar MA
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2305. PubMed ID: 37877434
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification and functional characterization of
    Li B; Wang Y; Hou D; Song Z; Zhang L; Li N; Yang R; Sun P
    Front Genet; 2023; 14():1270175. PubMed ID: 37928246
    [No Abstract]   [Full Text] [Related]  

  • 11. [A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant].
    Gao Z; Lyu Y; Zhang K; Gao M; Ma J; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun; 37(6):661-664. PubMed ID: 32472547
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
    Hamdan FF; Daoud H; Piton A; Gauthier J; Dobrzeniecka S; Krebs MO; Joober R; Lacaille JC; Nadeau A; Milunsky JM; Wang Z; Carmant L; Mottron L; Beauchamp MH; Rouleau GA; Michaud JL
    Biol Psychiatry; 2011 May; 69(9):898-901. PubMed ID: 21237447
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
    Hamdan FF; Gauthier J; Spiegelman D; Noreau A; Yang Y; Pellerin S; Dobrzeniecka S; Côté M; Perreau-Linck E; Carmant L; D'Anjou G; Fombonne E; Addington AM; Rapoport JL; Delisi LE; Krebs MO; Mouaffak F; Joober R; Mottron L; Drapeau P; Marineau C; Lafrenière RG; Lacaille JC; Rouleau GA; Michaud JL;
    N Engl J Med; 2009 Feb; 360(6):599-605. PubMed ID: 19196676
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
    Writzl K; Knegt AC
    Am J Med Genet A; 2013 Jul; 161A(7):1682-5. PubMed ID: 23687080
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
    Zhu W; Li J; Chen S; Zhang J; Vetrini F; Braxton A; Eng CM; Yang Y; Xia F; Keller KL; Okinaka-Hu L; Lee C; Holder JL; Bi W
    Am J Med Genet A; 2018 Apr; 176(4):973-979. PubMed ID: 29423971
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. [Identification of a novel SYNGAP1 mutation in a child with intellectual disability].
    Lu J; Zhang Y; Han C; Zhu J; Wang J; Yao R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):716-719. PubMed ID: 31302919
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.