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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

279 related articles for article (PubMed ID: 28969385)

  • 1. 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; 140(10):2610-2622. PubMed ID: 28969385
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
    Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
    JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 181(4):582-590. PubMed ID: 31441589
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 145(3):925-938. PubMed ID: 35355055
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 115():104471. PubMed ID: 32446860
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 62(12):703-709. PubMed ID: 37395289
    [TBL] [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; ; Majewski J; Bulman DE; O'Driscoll M; Shendure J; Graham JM; Boycott KM; Dobyns WB
    Nat Genet; 2012 Jun; 44(8):934-40. PubMed ID: 22729224
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 147():154-162. PubMed ID: 37619436
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 18(1):4. PubMed ID: 28086757
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
    Wang D; Zeesman S; Tarnopolsky MA; Nowaczyk MJ
    Am J Med Genet A; 2013 Aug; 161A(8):2016-9. PubMed ID: 23794269
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 88(3):241-7. PubMed ID: 25091978
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
    Handoko M; Emrick LT; Rosenfeld JA; Wang X; Tran AA; Turner A; Belmont JW; ; Lee BH; Bacino CA; Chao HT
    Am J Med Genet A; 2019 Mar; 179(3):475-479. PubMed ID: 30569621
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
    Yeung KS; Tso WWY; Ip JJK; Mak CCY; Leung GKC; Tsang MHY; Ying D; Pei SLC; Lee SL; Yang W; Chung BH
    Mol Autism; 2017; 8():66. PubMed ID: 29296277
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations.
    Hevner RF
    Semin Perinatol; 2015 Feb; 39(1):36-43. PubMed ID: 25432429
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
    Stutterd C; McGillivray G; Stark Z; Messazos B; Cameron F; White S; ; Mirzaa G; Leventer R
    Eur J Med Genet; 2018 Dec; 61(12):738-740. PubMed ID: 29883676
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
    Mirzaa GM; Conti V; Timms AE; Smyser CD; Ahmed S; Carter M; Barnett S; Hufnagel RB; Goldstein A; Narumi-Kishimoto Y; Olds C; Collins S; Johnston K; Deleuze JF; Nitschké P; Friend K; Harris C; Goetsch A; Martin B; Boyle EA; Parrini E; Mei D; Tattini L; Slavotinek A; Blair E; Barnett C; Shendure J; Chelly J; Dobyns WB; Guerrini R
    Lancet Neurol; 2015 Dec; 14(12):1182-95. PubMed ID: 26520804
    [TBL] [Abstract][Full Text] [Related]  

  • 20. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
    Gordo G; Tenorio J; Arias P; Santos-Simarro F; García-Miñaur S; Moreno JC; Nevado J; Vallespin E; Rodriguez-Laguna L; de Mena R; Dapia I; Palomares-Bralo M; Del Pozo Á; Ibañez K; Silla JC; Barroso E; Ruiz-Pérez VL; Martinez-Glez V; Lapunzina P
    Clin Genet; 2018 Apr; 93(4):762-775. PubMed ID: 28892148
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.