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PUBMED FOR HANDHELDS

Journal Abstract Search


159 related items for PubMed ID: 34227036

  • 1. 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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  • 2. 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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  • 3. 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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  • 7. 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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  • 10. A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
    Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N.
    BMC Med Genet; 2020 Jun 30; 21(1):140. PubMed ID: 32605629
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  • 14. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
    Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.
    Genet Med; 2019 Sep 30; 21(9):2059-2069. PubMed ID: 30923367
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  • 16. The p21-activated kinase PAK3 forms heterodimers with PAK1 in brain implementing trans-regulation of PAK3 activity.
    Combeau G, Kreis P, Domenichini F, Amar M, Fossier P, Rousseau V, Barnier JV.
    J Biol Chem; 2012 Aug 31; 287(36):30084-96. PubMed ID: 22815483
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