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Journal Abstract Search

504 related items for PubMed ID: 26542245

  • 21. A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
    Papke CM, Smolen KA, Swingle MR, Cressey L, Heng RA, Toporsian M, Deng L, Hagen J, Shen Y, Chung WK, Kettenbach AN, Honkanen RE.
    J Biol Chem; 2021; 296():100313. PubMed ID: 33482199
    [Abstract] [Full Text] [Related]

  • 22. Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
    Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF.
    Am J Med Genet B Neuropsychiatr Genet; 2024 Sep; 195(6):e32976. PubMed ID: 38385826
    [Abstract] [Full Text] [Related]

  • 23. Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
    Liu AC, Shen Y, Serbinski CR, He H, Roman D, Endale M, Aschbacher-Smith L, King KA, Granadillo JL, López I, Krueger DA, Dye TJ, Smith DF, Hogenesch JB, Prada CE.
    HGG Adv; 2024 Oct 10; 5(4):100333. PubMed ID: 39030910
    [Abstract] [Full Text] [Related]

  • 24. mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
    Gerasimenko A, Baldassari S, Baulac S.
    Neurobiol Dis; 2023 Jun 15; 182():106144. PubMed ID: 37149062
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  • 26. A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
    Carli D, Ferrero GB, Fusillo A, Coppo P, La Selva R, Zinali F, Cardaropoli S, Ranieri C, Iacoviello M, Resta N, Mussa A.
    Clin Genet; 2021 May 15; 99(5):719-723. PubMed ID: 33506498
    [Abstract] [Full Text] [Related]

  • 27. Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.
    Shimojima K, Okamoto N, Goel H, Ondo Y, Yamamoto T.
    Eur J Med Genet; 2017 Dec 15; 60(12):650-654. PubMed ID: 28899818
    [Abstract] [Full Text] [Related]

  • 28. 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 15; 60(4):212-216. PubMed ID: 28126652
    [Abstract] [Full Text] [Related]

  • 29. 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 Apr 15; 9(1):e86940. PubMed ID: 24497998
    [Abstract] [Full Text] [Related]

  • 30. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
    Jobic F, Lacot-Leriche E, Piton A, Le Moing AG, Mathieu-Dramard M, Costantini S, Morin G, Jedraszak G.
    Am J Med Genet A; 2021 Dec 15; 185(12):3877-3883. PubMed ID: 34357686
    [Abstract] [Full Text] [Related]

  • 31. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
    Stutterd C, McGillivray G, Stark Z, Messazos B, Cameron F, White S, Melbourne Genomics Health Alliance, Mirzaa G, Leventer R.
    Eur J Med Genet; 2018 Dec 15; 61(12):738-740. PubMed ID: 29883676
    [Abstract] [Full Text] [Related]

  • 32. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
    Maguolo A, Antoniazzi F, Spano A, Fiorini E, Gaudino R, Mauro M, Cantalupo G, Biban P, Maitz S, Cavarzere P.
    Ital J Pediatr; 2018 Sep 19; 44(1):110. PubMed ID: 30231930
    [Abstract] [Full Text] [Related]

  • 33. A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.
    Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L.
    Eur J Hum Genet; 2016 Mar 19; 24(3):455-8. PubMed ID: 26153217
    [Abstract] [Full Text] [Related]

  • 34. Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
    Schultz-Rogers L, Muthusamy K, Pinto E Vairo F, Klee EW, Lanpher B.
    BMC Med Genet; 2020 Nov 10; 21(1):219. PubMed ID: 33167890
    [Abstract] [Full Text] [Related]

  • 35. 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 10; 138(Pt 6):1613-28. PubMed ID: 25722288
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  • 38. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
    Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A.
    Hum Mol Genet; 2019 Nov 15; 28(22):3755-3765. PubMed ID: 31411685
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.
    Pan N, Chen S, Cai X, Li J, Yu T, Huang HF, Zhang J, Xu C.
    Mol Genet Genomic Med; 2021 Sep 12; 9(9):e1763. PubMed ID: 34296532
    [Abstract] [Full Text] [Related]

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