BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 37272175)

  • 1. [Autosomal dominant mental retardation type 5 caused by
    Wang XL; Tian YN; Chen C; Peng J
    Zhongguo Dang Dai Er Ke Za Zhi; 2023 May; 25(5):489-496. PubMed ID: 37272175
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by
    Wang Y; Lv Y; Li Z; Gao M; Yang X; Li Y; Shi J; Gao Z; Liu Y; Gai Z
    Front Genet; 2022; 13():957915. PubMed ID: 36583017
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 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. 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]  

  • 6. [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]  

  • 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; 18(1):62. PubMed ID: 28576131
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9.
    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]  

  • 10. [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
    Shen Y; Luo G; Lu C; Tan Y; Cheng T; Qian X; Li N; Luo M; Cao Z; Ma X; Zhao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):57-61. PubMed ID: 36585002
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 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. Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene.
    Wang Y; Lv Y; Yang X; Li Y; Li Z; Gao Z; Gai Z; Liu Y
    Stem Cell Res; 2022 Oct; 64():102922. PubMed ID: 36183676
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.
    Kang Q; Yang L; Liao H; Wu L; Chen B; Yang S; Kuang X; Yang H; Liao C
    Medicine (Baltimore); 2021 Jun; 100(23):e26093. PubMed ID: 34114993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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]  

  • 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; 47(11):9225-9234. PubMed ID: 33090308
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 41(1):25-31. PubMed ID: 38171555
    [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.