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Journal Abstract Search

326 related items for PubMed ID: 26096872

  • 21. Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
    Valenzuela I, Fernández-Alvarez P, Munell F, Sanchez-Montanez A, Giralt G, Vendrell T, Tizzano EF.
    Eur J Med Genet; 2017 Jun; 60(6):303-307. PubMed ID: 28344185
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  • 22. Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.
    Ma BO, Song BG, Yang HJ, Jeon GJ, Lee JU, Kim TH, Kang GH, Park YH, Chun WJ, Oh JH.
    Heart Lung Circ; 2012 Apr; 21(4):215-7. PubMed ID: 22325833
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  • 23. [Reversible Cerebral Vasoconstriction Syndrome(RCVS)and Posterior Reversible Encephalopathy Syndrome(PRES)].
    Tada M.
    No Shinkei Geka; 2021 Mar; 49(2):342-348. PubMed ID: 33762455
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  • 24. Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
    Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW.
    Cold Spring Harb Mol Case Stud; 2017 Jul; 3(4):. PubMed ID: 28679693
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  • 25. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
    Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A.
    BMC Med Genet; 2018 Sep 15; 19(1):170. PubMed ID: 30219046
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  • 26. Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
    Yang JH, Ki CS, Han H, Song BG, Jang SY, Chung TY, Sung K, Lee HJ, Kim DK.
    J Hum Genet; 2012 Jan 15; 57(1):52-6. PubMed ID: 22113417
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  • 27. Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation.
    Edelman JJ, Ramponi F, Bannon PG, Jeremy R.
    Interact Cardiovasc Thorac Surg; 2011 May 15; 12(5):863-5. PubMed ID: 21324918
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  • 29. A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.
    Fujita D, Takeda N, Morita H, Kato M, Nishimura H, Inuzuka R, Taniguchi Y, Nawata K, Hyodo H, Imai Y, Hirata Y, Komuro I.
    Int J Cardiol; 2015 Dec 15; 201():288-90. PubMed ID: 26301661
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  • 32. Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?
    Woolnough R, Dhawan A, Dow K, Walia JS.
    Pediatrics; 2017 Mar 15; 139(3):. PubMed ID: 28209770
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  • 38. Loeys-Dietz syndrome.
    Van Laer L, Dietz H, Loeys B.
    Adv Exp Med Biol; 2014 Mar 15; 802():95-105. PubMed ID: 24443023
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