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PUBMED FOR HANDHELDS

Journal Abstract Search

412 related items for PubMed ID: 28502730

  • 1. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
    Akgumus G, Chang F, Li MM.
    J Mol Diagn; 2017 Jul; 19(4):487-497. PubMed ID: 28502730
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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; 7(3):e536. PubMed ID: 30761771
    [Abstract] [Full Text] [Related]

  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mirzaa G, Graham JM, Keppler-Noreuil K.
    ; 1993 Mar. PubMed ID: 23946963
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
    Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB.
    Am J Med Genet A; 2014 Oct; 164A(10):2633-7. PubMed ID: 25044986
    [Abstract] [Full Text] [Related]

  • 8. Molecular analysis of a uterine broad ligament leiomyoma in a patient with CLOVES syndrome.
    Karpathiou G, Chauleur C, Picot T, Peoc'h M.
    Pathol Res Pract; 2020 Dec; 216(12):153285. PubMed ID: 33190013
    [Abstract] [Full Text] [Related]

  • 9. 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; 35(3):e186-e188. PubMed ID: 29493003
    [Abstract] [Full Text] [Related]

  • 10. What's New in Genetic Skin Diseases.
    Hill CR, Theos A.
    Dermatol Clin; 2019 Apr; 37(2):229-239. PubMed ID: 30850045
    [Abstract] [Full Text] [Related]

  • 11. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
    Vahidnezhad H, Youssefian L, Uitto J.
    Exp Dermatol; 2016 Jan; 25(1):17-9. PubMed ID: 26268729
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Vascular malformations syndromes: an update.
    Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S.
    Curr Opin Pediatr; 2019 Dec 01; 31(6):747-753. PubMed ID: 31693582
    [Abstract] [Full Text] [Related]

  • 14. Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.
    Youssefian L, Vahidnezhad H, Baghdadi T, Ghaznavi A, Li Q, Tabrizi M, Uitto J.
    J Invest Dermatol; 2015 May 01; 135(5):1450-1453. PubMed ID: 25602158
    [No Abstract] [Full Text] [Related]

  • 15. Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies.
    Bertino F, Braithwaite KA, Hawkins CM, Gill AE, Briones MA, Swerdlin R, Milla SS.
    Radiographics; 2019 May 01; 39(2):491-515. PubMed ID: 30844349
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 91(1):14-21. PubMed ID: 27426476
    [Abstract] [Full Text] [Related]

  • 17. Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA.
    Kang HC, Baek ST, Song S, Gleeson JG.
    J Pediatr; 2015 Nov 01; 167(5):957-62. PubMed ID: 26340871
    [No Abstract] [Full Text] [Related]

  • 18. Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
    Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL.
    Am J Med Genet A; 2014 May 01; 164A(5):1318-21. PubMed ID: 24665065
    [Abstract] [Full Text] [Related]

  • 19. Cloves syndrome: a case report and perinatal diagnostic findings.
    Puvabanditsin S, Memon N, Chekmareva M, Di Stefano V, Mehta R.
    Genet Couns; 2014 May 01; 25(3):265-70. PubMed ID: 25365848
    [Abstract] [Full Text] [Related]

  • 20. CLOVES syndrome.
    Bloom J, Upton J.
    J Hand Surg Am; 2013 Dec 01; 38(12):2508-12. PubMed ID: 24161472
    [Abstract] [Full Text] [Related]

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