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Journal Abstract Search

1092 related items for PubMed ID: 25722288

  • 1. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
    Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB.
    Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288
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  • 2. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
    Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM.
    Brain; 2022 Apr 29; 145(3):925-938. PubMed ID: 35355055
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  • 4. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
    Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.
    BMC Med Genet; 2017 Jan 13; 18(1):4. PubMed ID: 28086757
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  • 8. Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.
    Hevner RF.
    Semin Perinatol; 2015 Feb 13; 39(1):36-43. PubMed ID: 25432429
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  • 9. Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.
    Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R.
    Clin Genet; 2015 Sep 13; 88(3):241-7. PubMed ID: 25091978
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  • 10. Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
    Dobyns WB, Mirzaa GM.
    Am J Med Genet C Semin Med Genet; 2019 Dec 13; 181(4):582-590. PubMed ID: 31441589
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  • 11. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
    Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL.
    Brain; 2022 Aug 27; 145(8):2704-2720. PubMed ID: 35441233
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  • 12. Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
    Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM.
    Pediatr Neurol; 2023 Oct 27; 147():154-162. PubMed ID: 37619436
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  • 13. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
    Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG.
    Nat Genet; 2012 Jun 24; 44(8):941-5. PubMed ID: 22729223
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  • 14. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
    Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB.
    Nat Genet; 2012 Jun 24; 44(8):934-40. PubMed ID: 22729224
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  • 15. Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.
    Itoh K, Pooh R, Shimokawa O, Fushiki S.
    Neuropathology; 2023 Apr 24; 43(2):190-196. PubMed ID: 36325654
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  • 16. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
    Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S.
    Acta Neuropathol; 2019 Dec 24; 138(6):885-900. PubMed ID: 31444548
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  • 17. Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia.
    Nakahashi M, Sato N, Yagishita A, Ota M, Saito Y, Sugai K, Sasaki M, Natsume J, Tsushima Y, Amanuma M, Endo K.
    Neuroradiology; 2009 Dec 24; 51(12):821-30. PubMed ID: 19672585
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  • 19. Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
    Salinas V, Vega P, Piccirilli MV, Chicco C, Ciraolo C, Christiansen S, Consalvo D, Perez-Maturo J, Medina N, González-Morón D, Novaro V, Perrone C, García MDC, Agosta G, Silva W, Kauffman M.
    Eur J Med Genet; 2019 Nov 24; 62(11):103571. PubMed ID: 30414531
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  • 20. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
    Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ.
    Elife; 2015 Dec 03; 4():. PubMed ID: 26633882
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