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Journal Abstract Search

168 related items for PubMed ID: 34887308

  • 1. The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
    Berland S, Jareld J, Hickson N, Schlecht H, Houge G, Douzgou S.
    Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34887308
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
    Gökpınar İli E, Taşdelen E, Durmaz CD, Altıner Ş, Tuncalı T, Martinez-Glez V, Karabulut HG, Vural S, Ceylaner S, Acar MO, Ilgın Ruhi H.
    Am J Med Genet A; 2022 Jun; 188(6):1792-1800. PubMed ID: 35238469
    [Abstract] [Full Text] [Related]

  • 3. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
    Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.
    Eur J Hum Genet; 2015 Mar; 23(3):409-12. PubMed ID: 24939587
    [Abstract] [Full Text] [Related]

  • 4. 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; 8(3):. PubMed ID: 35483878
    [Abstract] [Full Text] [Related]

  • 5. Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
    Park HJ, Shin CH, Yoo WJ, Cho TJ, Kim MJ, Seong MW, Park SS, Lee JH, Sim NS, Ko JM.
    Orphanet J Rare Dis; 2020 Aug 10; 15(1):205. PubMed ID: 32778138
    [Abstract] [Full Text] [Related]

  • 6. In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
    Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N.
    Neurogenetics; 2018 May 10; 19(2):77-91. PubMed ID: 29549527
    [Abstract] [Full Text] [Related]

  • 7. 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, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Kernohan KD, Boycott KM.
    Am J Med Genet A; 2024 Mar 10; 194(3):e63466. PubMed ID: 37949664
    [Abstract] [Full Text] [Related]

  • 8. [PIK3CA-related overgrowth syndrome (PROS)].
    Venot Q, Canaud G.
    Nephrol Ther; 2017 Apr 10; 13 Suppl 1():S155-S156. PubMed ID: 28577738
    [Abstract] [Full Text] [Related]

  • 9. PIK3CA-related overgrowth with an uncommon phenotype: case report.
    Rotunno R, Diociaiuti A, Pisaneschi E, Carnevale C, Dentici M, El Hachem M.
    Ital J Pediatr; 2022 May 12; 48(1):71. PubMed ID: 35551640
    [Abstract] [Full Text] [Related]

  • 10. Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
    Zollino M, Ranieri C, Grossi V, Leoni C, Lattante S, Mazzà D, Simone C, Resta N.
    Mol Genet Genomic Med; 2019 Aug 12; 7(8):e845. PubMed ID: 31290289
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
    Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L.
    Hum Mol Genet; 2023 Apr 20; 32(9):1457-1465. PubMed ID: 36458889
    [Abstract] [Full Text] [Related]

  • 13. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
    Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.
    Am J Med Genet A; 2015 Feb 20; 167A(2):287-95. PubMed ID: 25557259
    [Abstract] [Full Text] [Related]

  • 14. The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).
    Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N.
    Oncotarget; 2017 Jul 11; 8(28):45470-45483. PubMed ID: 28525374
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 Jun 24; 9(1):e86940. PubMed ID: 24497998
    [Abstract] [Full Text] [Related]

  • 17. Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
    De Graer C, Marangoni M, Romnée S, Delaunoy M, Zaytouni S, D'Haene N, Désir J, Donner C.
    Eur J Med Genet; 2020 Apr 24; 63(4):103775. PubMed ID: 31568861
    [Abstract] [Full Text] [Related]

  • 18. Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
    Di Stasi M, Izzo G, Cattaneo E, Baraldini V, Doneda C, Righini A, Graziani D, Toto V, Parazzini C.
    Neurogenetics; 2021 Mar 24; 22(1):27-32. PubMed ID: 32901329
    [Abstract] [Full Text] [Related]

  • 19. Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
    Dexheimer J, Mirzaa GM.
    Adv Ther; 2022 Sep 24; 39(9):3871-3880. PubMed ID: 35857185
    [Abstract] [Full Text] [Related]

  • 20. Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.
    Yan W, Zhang B, Wang H, Mo R, Jiang X, Qin W, Ma L, Lin Z.
    Hereditas; 2021 Jun 01; 158(1):18. PubMed ID: 34074347
    [Abstract] [Full Text] [Related]

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