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Journal Abstract Search

205 related items for PubMed ID: 25416470

  • 1. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
    Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M.
    Childs Nerv Syst; 2015 Mar; 31(3):465-71. PubMed ID: 25416470
    [Abstract] [Full Text] [Related]

  • 2. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
    Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, Bindels-de Heus K, Sibbles BJ, de Coo R, Brooks A, Mancini GM.
    Mol Genet Metab; 2015 Mar; 114(3):467-73. PubMed ID: 25523067
    [Abstract] [Full Text] [Related]

  • 3. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
    Mirzaa GM, Rivière JB, Dobyns WB.
    Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320
    [Abstract] [Full Text] [Related]

  • 4. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
    Tapper WJ, Foulds N, Cross NC, Aranaz P, Score J, Hidalgo-Curtis C, Robinson DO, Gibson J, Ennis S, Temple IK, Collins A.
    PLoS One; 2014 May; 9(1):e86940. PubMed ID: 24497998
    [Abstract] [Full Text] [Related]

  • 5. Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).
    St John LJ, Rao N.
    BMJ Case Rep; 2021 Dec 30; 14(12):. PubMed ID: 34969807
    [Abstract] [Full Text] [Related]

  • 6. Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
    Fortin O, Ashour M, Lacroix C, Sabapathy CA, Myers KA.
    Can J Neurol Sci; 2020 Nov 30; 47(6):828-829. PubMed ID: 32631464
    [Abstract] [Full Text] [Related]

  • 7. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
    Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB.
    Am J Med Genet A; 2012 Feb 30; 158A(2):269-91. PubMed ID: 22228622
    [Abstract] [Full Text] [Related]

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

  • 9. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
    Chen WL, Pao E, Owens J, Glass I, Pritchard C, Shirts BH, Lockwood C, Mirzaa GM.
    Cold Spring Harb Mol Case Stud; 2022 Apr 24; 8(3):. PubMed ID: 35483878
    [Abstract] [Full Text] [Related]

  • 10. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.
    Segal D, Heary RF, Sabharwal S, Barry MT, Ming X.
    J Neurosurg Pediatr; 2016 Jul 24; 18(1):79-82. PubMed ID: 27035547
    [Abstract] [Full Text] [Related]

  • 11. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
    Luca M, Piglionica M, Bagnulo R, Cardaropoli S, Carli D, Turchiano A, Coppo P, Pantaleo A, Iacoviello M, Ferrero GB, Mussa A, Resta N.
    Genes Chromosomes Cancer; 2023 Dec 24; 62(12):703-709. PubMed ID: 37395289
    [Abstract] [Full Text] [Related]

  • 12. Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
    Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G.
    Am J Med Genet A; 2020 Jan 24; 182(1):162-168. PubMed ID: 31729162
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
    Szalai R, Melegh BI, Till A, Ripszam R, Csabi G, Acharya A, Schrauwen I, Leal SM, Komoly S, Kosztolanyi G, Hadzsiev K.
    Exp Mol Pathol; 2020 Aug 13; 115():104471. PubMed ID: 32446860
    [Abstract] [Full Text] [Related]

  • 15. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
    Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.
    Brain; 2017 Oct 01; 140(10):2610-2622. PubMed ID: 28969385
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  • 20. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
    Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
    Clin Genet; 2014 Apr 01; 85(4):396-8. PubMed ID: 23745724
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