These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

147 related items for PubMed ID: 33683022

  • 1. 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]

  • 2. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
    Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M.
    Am J Hum Genet; 2019 May 02; 104(5):968-976. PubMed ID: 31031011
    [Abstract] [Full Text] [Related]

  • 3. 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 02; 182(7):1576-1591. PubMed ID: 32500973
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. 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 02; 181(4):650-657. PubMed ID: 31710779
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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 02; 173(9):2422-2427. PubMed ID: 28639748
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. 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 02; 179(6):1047-1052. PubMed ID: 30941910
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 26(14):3902-3912. PubMed ID: 35689379
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
    Bredrup C, Cristea I, Safieh LA, Di Maria E, Gjertsen BT, Tveit KS, Thu F, Bull N, Edward DP, Hennekam RCM, Høvding G, Haugen OH, Houge G, Rødahl E, Bruland O.
    Hum Mol Genet; 2021 Mar 25; 30(1):72-77. PubMed ID: 33450762
    [Abstract] [Full Text] [Related]

  • 16. 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 25; 101(1):144-145. PubMed ID: 34708400
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. 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 25; 20(1):142-150. PubMed ID: 28726812
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.