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Journal Abstract Search

363 related items for PubMed ID: 32446860

  • 1.
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  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mirzaa G.
    ; 1993. PubMed ID: 27854409
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  • 3. Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
    Su XR, Ma B, Zhang C, Li TG, Han BL, Wu WR, Nie F.
    Fetal Diagn Ther; 2024; 51(2):154-158. PubMed ID: 38008077
    [Abstract] [Full Text] [Related]

  • 4. A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.
    Maini I, Farnetti E, Caraffi SG, Ivanovski I, De Bernardi ML, Gelmini C, Pollazzon M, Rosato S, Laurie S, Matalonga L, Baldo C, Garavelli L.
    Neuropediatrics; 2018 Jun; 49(3):222-224. PubMed ID: 29642246
    [No Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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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  • 9. 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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  • 11. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
    Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, FORGE Canada Consortium, Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG.
    Nat Genet; 2014 May 01; 46(5):510-515. PubMed ID: 24705253
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 62(12):703-709. PubMed ID: 37395289
    [Abstract] [Full Text] [Related]

  • 13. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
    Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.
    Am J Med Genet A; 2009 May 01; 149A(5):868-76. PubMed ID: 19353582
    [Abstract] [Full Text] [Related]

  • 14. Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
    Mok KM, Carpenter JL, Herrada P, Greene C, Yazbek S, Erdemir G.
    Pediatr Neurol; 2024 Dec 01; 161():185-187. PubMed ID: 39395260
    [Abstract] [Full Text] [Related]

  • 15. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.
    Cappuccio G, Ugga L, Parrini E, D'Amico A, Brunetti-Pierri N.
    Mol Genet Genomic Med; 2019 Jun 01; 7(6):e708. PubMed ID: 31056854
    [Abstract] [Full Text] [Related]

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  • 17. 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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  • 19. 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, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT.
    Am J Med Genet A; 2019 Mar 01; 179(3):475-479. PubMed ID: 30569621
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