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Journal Abstract Search

104 related items for PubMed ID: 31678216

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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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  • 4. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
    Qian Y, Wu B, Lu Y, Zhou W, Wang S, Wang H.
    BMC Med Genet; 2020 Feb 12; 21(1):31. PubMed ID: 32050918
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  • 6. 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 12; 71(12):2474-2481. PubMed ID: 34227036
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  • 8. Alteration of synaptic network dynamics by the intellectual disability protein PAK3.
    Dubos A, Combeau G, Bernardinelli Y, Barnier JV, Hartley O, Gaertner H, Boda B, Muller D.
    J Neurosci; 2012 Jan 11; 32(2):519-27. PubMed ID: 22238087
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  • 12. 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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  • 14. PAK3 related mental disability: further characterization of the phenotype.
    Peippo M, Koivisto AM, Särkämö T, Sipponen M, von Koskull H, Ylisaukko-oja T, Rehnström K, Froyen G, Ignatius J, Järvelä I.
    Am J Med Genet A; 2007 Oct 15; 143A(20):2406-16. PubMed ID: 17853471
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  • 15. Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.
    Almutairi O, Almutairi HA, Al Rushood M.
    Am J Case Rep; 2021 May 20; 22():e930966. PubMed ID: 34014906
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  • 19. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
    Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.
    Am J Med Genet A; 2015 Dec 20; 167A(12):3180-5. PubMed ID: 26338144
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  • 20. Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
    Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C.
    Hum Mutat; 2016 Aug 20; 37(8):755-64. PubMed ID: 27094817
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