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Journal Abstract Search

198 related items for PubMed ID: 31645346

  • 1. 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; 5(5):. PubMed ID: 31645346
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 10; 20(1):142-150. PubMed ID: 28726812
    [Abstract] [Full Text] [Related]

  • 6. Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
    Hettmer S, Dachy G, Seitz G, Agaimy A, Duncan C, Jongmans M, Hirsch S, Kventsel I, Kordes U, de Krijger RR, Metzler M, Michaeli O, Nemes K, Poluha A, Ripperger T, Russo A, Smetsers S, Sparber-Sauer M, Stutz E, Bourdeaut F, Kratz CP, Demoulin JB.
    Fam Cancer; 2021 Oct 10; 20(4):327-336. PubMed ID: 32888134
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 Sep 01; 22(3):258-264. PubMed ID: 30103666
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 182(7):1576-1591. PubMed ID: 32500973
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 179(9):1895-1897. PubMed ID: 31291054
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
    Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, Høvding G, Steen VM, Rødahl E, Bruland O, Houge G.
    Eur J Hum Genet; 2019 Apr 06; 27(4):574-581. PubMed ID: 30573803
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
    Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H.
    Am J Hum Genet; 2013 Jun 06; 92(6):1001-7. PubMed ID: 23731542
    [Abstract] [Full Text] [Related]

  • 16. Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.
    Nédélec A, Guérit EM, Dachy G, Lenglez S, Wong LS, Arts FA, Demoulin JB.
    J Cell Mol Med; 2022 Jul 06; 26(14):3902-3912. PubMed ID: 35689379
    [Abstract] [Full Text] [Related]

  • 17. Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.
    Howaldt A, Lenglez S, Velmans C, Schultheis AM, Clahsen T, Matthaei M, Kohlhase J, Vokuhl C, Büttner R, Netzer C, Demoulin JB, Cursiefen C.
    Ophthalmol Sci; 2024 Jul 06; 4(3):100444. PubMed ID: 38374928
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Novel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring.
    Elsbernd A, Boulouadnine B, Ahmed A, Farooqi M, Sandritter T, Shakhnovich V, Blanding D, Demoulin JB, Thompson J.
    JCO Precis Oncol; 2022 Oct 06; 6():e2200250. PubMed ID: 36201717
    [No Abstract] [Full Text] [Related]

  • 20. [Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].
    Dereure O.
    Ann Dermatol Venereol; 2017 Oct 06; 144(8-9):574-575. PubMed ID: 28756885
    [No Abstract] [Full Text] [Related]

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