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Journal Abstract Search

500 related items for PubMed ID: 24782230

  • 1. 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]

  • 2. 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; 167A(2):287-95. PubMed ID: 25557259
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mirzaa G, Graham JM, Keppler-Noreuil K.
    ; 1993 Feb. PubMed ID: 23946963
    [Abstract] [Full Text] [Related]

  • 4. 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; 135(5):1450-1453. PubMed ID: 25602158
    [No Abstract] [Full Text] [Related]

  • 5. 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]

  • 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
    [Abstract] [Full Text] [Related]

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

  • 8. 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]

  • 9. 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]

  • 10. 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; 164A(5):1318-21. PubMed ID: 24665065
    [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. 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; 194(3):e63466. PubMed ID: 37949664
    [Abstract] [Full Text] [Related]

  • 13. 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; 167(5):957-62. PubMed ID: 26340871
    [No Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
    Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N.
    PLoS One; 2015 Jul; 10(4):e0123092. PubMed ID: 25915946
    [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; 91(1):14-21. PubMed ID: 27426476
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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