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Journal Abstract Search

147 related items for PubMed ID: 31710779

  • 1. 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]

  • 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
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  • 4. Phenotype expansion and development in Kosaki overgrowth syndrome.
    Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M.
    Clin Genet; 2018 Apr; 93(4):919-924. PubMed ID: 29226947
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  • 7. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
    Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT.
    Am J Med Genet A; 2019 Jun; 179(6):1047-1052. PubMed ID: 30941910
    [Abstract] [Full Text] [Related]

  • 8. Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
    Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki K.
    J Pediatr; 2015 Feb; 166(2):483-6. PubMed ID: 25454926
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  • 9. 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
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  • 10. Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant.
    Mutlu Albayrak H, Calder AD.
    Mol Syndromol; 2022 Feb; 13(1):38-44. PubMed ID: 35221873
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  • 11. 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
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  • 12. STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ.
    He C, Medley SC, Kim J, Sun C, Kwon HR, Sakashita H, Pincu Y, Yao L, Eppard D, Dai B, Berry WL, Griffin TM, Olson LE.
    Genes Dev; 2017 Aug 15; 31(16):1666-1678. PubMed ID: 28924035
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  • 13. 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]

  • 14. 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
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  • 15. Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
    Hernández Dorronsoro U, Gawlinski P, Lasa-Aranzasti A, Martínez-Soroa I, Artola Aizalde E, Saez Villaverde R, Aguirre Rodríguez C, Satrustegi Aritziturri M.
    Clin Genet; 2022 Jan 23; 101(1):144-145. PubMed ID: 34708400
    [No Abstract] [Full Text] [Related]

  • 16. 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
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  • 17. A Distinctive Genomic and Immunohistochemical Profile for NOTCH3 and PDGFRB in Myofibroma With Diagnostic and Therapeutic Implications.
    Koo SC, Janeway KA, Harris MH, Fryer CJ, Aster JC, Al-Ibraheemi A, Church AJ.
    Int J Surg Pathol; 2020 Apr 03; 28(2):128-137. PubMed ID: 31566039
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  • 18. Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.
    Rustad CF, Tveten K, Prescott TE, Bjerkeseth PO, Bredrup C, Pfeiffer HCV.
    Am J Med Genet A; 2021 Aug 03; 185(8):2597-2601. PubMed ID: 33979467
    [No Abstract] [Full Text] [Related]

  • 19. Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.
    Agaimy A, Bieg M, Michal M, Geddert H, Märkl B, Seitz J, Moskalev EA, Schlesner M, Metzler M, Hartmann A, Wiemann S, Michal M, Mentzel T, Haller F.
    Am J Surg Pathol; 2017 Feb 03; 41(2):195-203. PubMed ID: 27776010
    [Abstract] [Full Text] [Related]

  • 20. Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
    Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM, Roé E, Baselga E.
    Am J Med Genet A; 2022 Apr 03; 188(4):1233-1238. PubMed ID: 34894066
    [Abstract] [Full Text] [Related]

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