These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

339 related items for PubMed ID: 28126652

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
    Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H.
    OMICS; 2017 May; 21(5):295-303. PubMed ID: 28481730
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
    Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P.
    Eur J Med Genet; 2014 Apr 12; 57(5):200-6. PubMed ID: 24462886
    [Abstract] [Full Text] [Related]

  • 10. A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.
    Ohori S, Mitsuhashi S, Ben-Haim R, Heyman E, Sengoku T, Ogata K, Matsumoto N.
    J Hum Genet; 2020 May 12; 65(5):481-485. PubMed ID: 32005903
    [Abstract] [Full Text] [Related]

  • 11. [Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].
    Wang C, Qiu X, Hu H, Jin B, Cheng Y, Zhao Y, Zhou C, Ma L, Zhang Y, Zheng F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul 10; 40(7):865-870. PubMed ID: 37368392
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
    Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK.
    Neurogenetics; 2016 Jan 10; 17(1):43-9. PubMed ID: 26576547
    [Abstract] [Full Text] [Related]

  • 14. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
    Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C.
    Am J Med Genet; 2000 Aug 14; 93(4):294-8. PubMed ID: 10946356
    [Abstract] [Full Text] [Related]

  • 15. A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
    Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A.
    Am J Med Genet A; 2016 Jul 14; 170(7):1868-73. PubMed ID: 27108999
    [Abstract] [Full Text] [Related]

  • 16. PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
    Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT.
    Am J Med Genet A; 2023 Jun 14; 191(6):1619-1625. PubMed ID: 36905087
    [Abstract] [Full Text] [Related]

  • 17. The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis.
    Castillon C, Gonzalez L, Domenichini F, Guyon S, Da Silva K, Durand C, Lestaevel P, Vaillend C, Laroche S, Barnier JV, Poirier R.
    Hum Mol Genet; 2020 Jul 29; 29(12):1950-1968. PubMed ID: 31943058
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 63(4):103800. PubMed ID: 31678216
    [No Abstract] [Full Text] [Related]

  • 20. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
    Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M.
    Hum Mol Genet; 2014 Jul 01; 23(13):3607-17. PubMed ID: 24556213
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 17.