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Journal Abstract Search

153 related items for PubMed ID: 31004414

  • 1. 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; 179(7):1304-1309. PubMed ID: 31004414
    [Abstract] [Full Text] [Related]

  • 2. Expansion of the phenotype of Kosaki overgrowth syndrome.
    Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ.
    Am J Med Genet A; 2017 Sep; 173(9):2422-2427. PubMed ID: 28639748
    [Abstract] [Full Text] [Related]

  • 3. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.
    Takenouchi T, Okuno H, Kosaki K.
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):650-657. PubMed ID: 31710779
    [Abstract] [Full Text] [Related]

  • 4. 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; 182(7):1576-1591. PubMed ID: 32500973
    [Abstract] [Full Text] [Related]

  • 5. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
    Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P, UCLA Clinical Genomics Center, Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT.
    Am J Med Genet A; 2021 May; 185(5):1430-1436. PubMed ID: 33683022
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
    Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG.
    Am J Hum Genet; 2015 Sep 03; 97(3):465-74. PubMed ID: 26279204
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 23; 26(14):3902-3912. PubMed ID: 35689379
    [Abstract] [Full Text] [Related]

  • 10. 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 23; 27(4):574-581. PubMed ID: 30573803
    [Abstract] [Full Text] [Related]

  • 11. The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.
    Moura DAP, de Oliveira JRM.
    J Mol Neurosci; 2020 Dec 23; 70(12):2102-2106. PubMed ID: 32613555
    [Abstract] [Full Text] [Related]

  • 12. Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
    Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L.
    Clin Genet; 2020 Jul 23; 98(1):19-31. PubMed ID: 32291752
    [Abstract] [Full Text] [Related]

  • 13. 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 Jul 23; 22(3):258-264. PubMed ID: 30103666
    [Abstract] [Full Text] [Related]

  • 14. [Sporadic infantile myofibromatosis: Mutations with PDGFRB gain-of-function].
    Dereure O.
    Ann Dermatol Venereol; 2017 Jul 23; 144(8-9):574-575. PubMed ID: 28756885
    [No Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
    Mathorne SW, Sørensen K, Fagerberg C, Bode M, Hertz JM.
    BMC Neurol; 2019 Apr 12; 19(1):60. PubMed ID: 30979360
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 06; 179(9):1895-1897. PubMed ID: 31291054
    [Abstract] [Full Text] [Related]

  • 20. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
    Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D, French IBGC Study Group.
    Brain; 2013 Nov 06; 136(Pt 11):3395-407. PubMed ID: 24065723
    [Abstract] [Full Text] [Related]

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