BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 24665065)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. 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]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; ; Kernohan KD; Boycott KM
    Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. 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]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. What is your diagnosis?
    Panteliades M; Silva CM; Gontijo B
    An Bras Dermatol; 2016; 91(3):378-80. PubMed ID: 27438212
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 158(1):18. PubMed ID: 34074347
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 19(1):158. PubMed ID: 30180809
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.