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Journal Abstract Search

298 related items for PubMed ID: 30761771

  • 1. 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]

  • 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. 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]

  • 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. 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]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Recent advances in the study of somatic mosaicism and diseases other than cancer.
    Erickson RP.
    Curr Opin Genet Dev; 2014 Jun; 26():73-8. PubMed ID: 25050467
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Overgrowth syndromes and new therapies.
    Eng W, Hammill AM, Adams DM.
    Semin Pediatr Surg; 2020 Oct; 29(5):150974. PubMed ID: 33069285
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. 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]

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

  • 19. Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.
    Vahidnezhad H, Youssefian L, Baghdadi T, Sotoudeh S, Tavassoli A, Zeinali S, Afsharaalam S, Uitto J.
    Br J Dermatol; 2016 Oct; 175(4):810-4. PubMed ID: 27037860
    [No Abstract] [Full Text] [Related]

  • 20. 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]

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