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173 related items for PubMed ID: 37272175

  • 1. [Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].
    Wang XL, Tian YN, Chen C, Peng J.
    Zhongguo Dang Dai Er Ke Za Zhi; 2023 May 15; 25(5):489-496. PubMed ID: 37272175
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  • 7. 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 02; 18(1):62. PubMed ID: 28576131
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  • 11. 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 01; 69(9):898-901. PubMed ID: 21237447
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  • 14. 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 07; 55(2):204-208. PubMed ID: 37467311
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  • 15. [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 10; 37(6):661-664. PubMed ID: 32472547
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  • 16. 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 10; 161A(7):1682-5. PubMed ID: 23687080
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  • 17. Behavioural and neurodevelopmental characteristics of SYNGAP1.
    Bednarczuk N, Housby H, Lee IO, Consortium I, Skuse D, Wolstencroft J.
    J Neurodev Disord; 2024 Aug 15; 16(1):46. PubMed ID: 39148034
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  • 18. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
    Verma V, Mandora A, Botre A, Clement JP.
    Mol Biol Rep; 2020 Nov 15; 47(11):9225-9234. PubMed ID: 33090308
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  • 19. [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 10; 41(1):25-31. PubMed ID: 38171555
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  • 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 08; 11(1):18. PubMed ID: 31395010
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