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Journal Abstract Search

353 related items for PubMed ID: 28328134

  • 21. Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
    Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT.
    Am J Med Genet A; 2018 Nov; 176(11):2301-2308. PubMed ID: 30063105
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  • 22. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
    Chang F, Liu L, Fang E, Zhang G, Chen T, Cao K, Li Y, Li MM.
    J Mol Diagn; 2017 Jul; 19(4):613-624. PubMed ID: 28502725
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  • 23. Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.
    Rodríguez-Laguna L, Davis K, Finger M, Aubel D, Vlamis R, Johnson C.
    Orphanet J Rare Dis; 2022 May 07; 17(1):189. PubMed ID: 35526022
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  • 26. A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
    Palmieri M, Pinto AM, di Blasio L, Currò A, Monica V, Sarno LD, Doddato G, Baldassarri M, Frullanti E, Giliberti A, Mussolin B, Fallerini C, Molinaro F, Vaghi M, Renieri A, Primo L.
    Vascular; 2021 Feb 07; 29(1):85-91. PubMed ID: 32588787
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  • 29. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
    Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J, Guerrini R, Dobyns WB.
    JCI Insight; 2016 Jun 16; 1(9):. PubMed ID: 27631024
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  • 32. Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.
    Reis J, Alomari AI, Trenor CC, Adams DM, Fishman SJ, Spencer SA, Shaikh R, Lillis AP, Surnedi MK, Chaudry G.
    J Vasc Surg Venous Lymphat Disord; 2018 Jul 16; 6(4):511-516. PubMed ID: 29909856
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  • 35. Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
    Da Costa R, De Almeida S, Chevarin M, Hadj-Rabia S, Leclerc-Mercier S, Thauvin-Robinet C, Garrido C, Faivre L, Vabres P, Duplomb L, Jego G.
    Biochem Biophys Res Commun; 2020 Sep 24; 530(3):520-526. PubMed ID: 32620236
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