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353 related items for PubMed ID: 28328134

  • 1. Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
    Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH.
    Am J Med Genet A; 2017 Apr; 173(4):978-984. PubMed ID: 28328134
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  • 2. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.
    Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML.
    Clin Genet; 2018 May; 93(5):1075-1080. PubMed ID: 29231959
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  • 3. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
    Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R.
    J Pediatr; 2015 Apr; 166(4):1048-54.e1-5. PubMed ID: 25681199
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  • 4. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
    Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM, Geer J, Henderson A, Semple RK, Biesecker LG.
    Am J Med Genet A; 2014 Jul; 164A(7):1713-33. PubMed ID: 24782230
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  • 6. A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.
    Schreiber A, Grenier PO, Auger I.
    Pediatr Dermatol; 2017 Nov; 34(6):735-736. PubMed ID: 28833506
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  • 9. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
    Brouillard P, Schlögel MJ, Homayun Sepehr N, Helaers R, Queisser A, Fastré E, Boutry S, Schmitz S, Clapuyt P, Hammer F, Dompmartin A, Weitz-Tuoretmaa A, Laranne J, Pasquesoone L, Vilain C, Boon LM, Vikkula M.
    Orphanet J Rare Dis; 2021 Jun 10; 16(1):267. PubMed ID: 34112235
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  • 10. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
    Denorme P, Morren MA, Hollants S, Spaepen M, Suaer K, Zutterman N, Labarque V, Legius E, Brems H.
    Pediatr Dermatol; 2018 May 10; 35(3):e186-e188. PubMed ID: 29493003
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  • 11. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
    Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J.
    Clin Genet; 2017 Jan 10; 91(1):14-21. PubMed ID: 27426476
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  • 13. Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
    Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A.
    Mol Genet Genomic Med; 2019 Mar 10; 7(3):e536. PubMed ID: 30761771
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  • 15. Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.
    Sasaki Y, Ishikawa K, Hatanaka KC, Oyamada Y, Sakuhara Y, Shimizu T, Saito T, Murao N, Onodera T, Miura T, Maeda T, Funayama E, Hatanaka Y, Yamamoto Y, Sasaki S.
    Orphanet J Rare Dis; 2023 Sep 04; 18(1):270. PubMed ID: 37667289
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  • 20. Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
    Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA, AlBalwi MA.
    BMC Med Genet; 2018 Sep 04; 19(1):158. PubMed ID: 30180809
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