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Journal Abstract Search

327 related items for PubMed ID: 31444167

  • 1. A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
    Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI.
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31444167
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  • 4. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
    Hertecant J, Komara M, Nagi A, Al-Zaabi O, Fathallah W, Cui H, Yang Y, Eng CM, Al Sorkhy M, Ghattas MA, Al-Gazali L, Ali BR.
    Eur J Med Genet; 2017 Apr; 60(4):212-216. PubMed ID: 28126652
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  • 5. Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
    Pascolini G, Gaudioso F, Passarelli C, Novelli A, Di Giosaffatte N, Majore S, Grammatico P.
    J Mol Neurosci; 2021 Dec; 71(12):2474-2481. PubMed ID: 34227036
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  • 6. PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
    Duarte K, Heide S, Poëa-Guyon S, Rousseau V, Depienne C, Rastetter A, Nava C, Attié-Bitach T, Razavi F, Martinovic J, Moutard ML, Cherfils J, Mignot C, Héron D, Barnier JV.
    Neurobiol Dis; 2020 Mar; 136():104709. PubMed ID: 31843706
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  • 7. Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.
    Nagy D, Farkas K, Armengol L, Segura M, Esi Zodanu GK, Csányi B, Zimmermann A, Vámos B, Széll M.
    Eur J Med Genet; 2020 Apr; 63(4):103800. PubMed ID: 31678216
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  • 8. Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature.
    Okur V, Ganapathi M, Wilson A, Chung WK.
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275004
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  • 12. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N.
    Gene; 2021 Feb 05; 768():145260. PubMed ID: 33164824
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  • 15. A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
    Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N.
    Eur J Hum Genet; 2008 Nov 05; 16(11):1358-63. PubMed ID: 18523455
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  • 19. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
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