BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

250 related articles for article (PubMed ID: 31441589)

  • 1. 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]  

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

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
    Bourgon N; Carmignac V; Sorlin A; Duffourd Y; Philippe C; Thauvin-Robinet C; Guibaud L; Faivre L; Vabres P; Kuentz P;
    Ultrasound Obstet Gynecol; 2022 Apr; 59(4):532-542. PubMed ID: 34170046
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
    Klein SD; Nguyen DC; Bhakta V; Wong D; Chang VY; Davidson TB; Martinez-Agosto JA
    Am J Med Genet A; 2019 Dec; 179(12):2517-2531. PubMed ID: 31639285
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
    Mirzaa GM; Poduri A
    Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):156-72. PubMed ID: 24888963
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
    Leiter SM; Parker VER; Welters A; Knox R; Rocha N; Clark G; Payne F; Lotta L; Harris J; Guerrero-Fernández J; González-Casado I; García-Miñaur S; Gordo G; Wareham N; Martínez-Glez V; Allison M; O'Rahilly S; Barroso I; Meissner T; Davies S; Hussain K; Temple K; Barreda-Bonis AC; Kummer S; Semple RK
    Eur J Endocrinol; 2017 Aug; 177(2):175-186. PubMed ID: 28566443
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
    de Kock L; Cuillerier A; Gillespie M; Couse M; Hartley T; Mears W; Bernier FP; Chudley AE; Frosk P; Nikkel SM; Innes AM; Lauzon J; Thomas M; Guerin A; Armour CM; Weksberg R; Scott JN; Watkins D; Harvey S; Cytrynbaum C; ; Kernohan KD; Boycott KM
    Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
    Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
    BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 43(2):190-196. PubMed ID: 36325654
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.