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Journal Abstract Search

185 related items for PubMed ID: 30200486

  • 1. Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis.
    Sramek M, Neradil J, Macigova P, Mudry P, Polaskova K, Slaby O, Noskova H, Sterba J, Veselska R.
    Int J Mol Sci; 2018 Sep 01; 19(9):. PubMed ID: 30200486
    [Abstract] [Full Text] [Related]

  • 2. Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
    Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J.
    BMC Cancer; 2017 Feb 10; 17(1):119. PubMed ID: 28183292
    [Abstract] [Full Text] [Related]

  • 3. PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.
    Arts FA, Chand D, Pecquet C, Velghe AI, Constantinescu S, Hallberg B, Demoulin JB.
    Oncogene; 2016 Jun 23; 35(25):3239-48. PubMed ID: 26455322
    [Abstract] [Full Text] [Related]

  • 4. Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.
    Hassan M, Butler E, Wilson R, Roy A, Zheng Y, Liem P, Rakheja D, Pavlick D, Young LL, Rosenzweig M, Erlich R, Ali SM, Leavey PJ, Parsons DW, Skapek SX, Laetsch TW.
    Cold Spring Harb Mol Case Stud; 2019 Oct 23; 5(5):. PubMed ID: 31645346
    [Abstract] [Full Text] [Related]

  • 5. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
    Arts FA, Sciot R, Brichard B, Renard M, de Rocca Serra A, Dachy G, Noël LA, Velghe AI, Galant C, Debiec-Rychter M, Van Damme A, Vikkula M, Helaers R, Limaye N, Poirel HA, Demoulin JB.
    Hum Mol Genet; 2017 May 15; 26(10):1801-1810. PubMed ID: 28334876
    [Abstract] [Full Text] [Related]

  • 6. Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
    Al Qawahmed R, Sawyer SL, Vassilyadi M, Qin W, Boycott KM, Michaud J.
    Pediatr Dev Pathol; 2019 May 15; 22(3):258-264. PubMed ID: 30103666
    [Abstract] [Full Text] [Related]

  • 7. PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.
    Weller JM, Keil VC, Gielen GH, Herrlinger U, Schäfer N.
    Am J Med Genet A; 2019 Sep 15; 179(9):1895-1897. PubMed ID: 31291054
    [Abstract] [Full Text] [Related]

  • 8. [Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].
    Dereure O.
    Ann Dermatol Venereol; 2017 Sep 15; 144(8-9):574-575. PubMed ID: 28756885
    [No Abstract] [Full Text] [Related]

  • 9. A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
    Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.
    Am J Hum Genet; 2013 Jun 06; 92(6):996-1000. PubMed ID: 23731537
    [Abstract] [Full Text] [Related]

  • 10. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.
    Murray N, Hanna B, Graf N, Fu H, Mylène V, Campeau PM, Ronan A.
    Eur J Med Genet; 2017 Jul 06; 60(7):353-358. PubMed ID: 28286173
    [Abstract] [Full Text] [Related]

  • 11. Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
    Linhares ND, Freire MC, Cardenas RG, Bahia M, Puzenat E, Aubin F, Pena SD.
    Genet Mol Res; 2014 Aug 15; 13(3):6287-92. PubMed ID: 25158255
    [Abstract] [Full Text] [Related]

  • 12. A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
    Pond D, Arts FA, Mendelsohn NJ, Demoulin JB, Scharer G, Messinger Y.
    Genet Med; 2018 Jan 15; 20(1):142-150. PubMed ID: 28726812
    [Abstract] [Full Text] [Related]

  • 13. Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.
    Lepelletier C, Al-Sarraj Y, Bodemer C, Shaath H, Fraitag S, Kambouris M, Hamel-Teillac D, El Shanti H, Hadj-Rabia S.
    Acta Derm Venereol; 2017 Jul 06; 97(7):858-859. PubMed ID: 28417142
    [No Abstract] [Full Text] [Related]

  • 14. A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
    Guimier A, Gordon CT, Hully M, Blauwblomme T, Minard-Colin V, Bole-Feysot C, Nitschké P, Oufadem M, Boddaert N, Sarnacki S, Amiel J.
    Am J Med Genet A; 2019 Jul 06; 179(7):1304-1309. PubMed ID: 31004414
    [Abstract] [Full Text] [Related]

  • 15. Targeting platelet-derived growth factor receptor β inhibits the proliferation and motility of human pterygial fibroblasts.
    Mai W, Chen M, Huang M, Zhong J, Chen J, Liu X, Deng J, Yang X, Ye W, Zhang R, Zhou Q, Zhang D.
    Expert Opin Ther Targets; 2019 Sep 06; 23(9):805-817. PubMed ID: 31385548
    [Abstract] [Full Text] [Related]

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  • 17. [Myofibroma/myofibromatosis: a clinicopathologic analysis of 9 cases].
    Fu Y, Guan WY, Wu HY, Wu HY, Fan ZW, Ye Q, Meng FQ.
    Zhonghua Bing Li Xue Za Zhi; 2018 Jan 08; 47(1):45-50. PubMed ID: 29325250
    [Abstract] [Full Text] [Related]

  • 18. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
    Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB.
    Am J Med Genet A; 2020 Jul 08; 182(7):1576-1591. PubMed ID: 32500973
    [Abstract] [Full Text] [Related]

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  • 20. Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.
    Lee JW.
    Clin Genet; 2013 Oct 08; 84(4):340-1. PubMed ID: 23865785
    [No Abstract] [Full Text] [Related]

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