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Journal Abstract Search

211 related items for PubMed ID: 20425820

  • 21. Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.
    Bend EG, Louie RJ, Stevenson RE.
    Clin Dysmorphol; 2019 Apr; 28(2):71-73. PubMed ID: 30664540
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  • 31. Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
    Giannoulatou E, McVean G, Taylor IB, McGowan SJ, Maher GJ, Iqbal Z, Pfeifer SP, Turner I, Burkitt Wright EM, Shorto J, Itani A, Turner K, Gregory L, Buck D, Rajpert-De Meyts E, Looijenga LH, Kerr B, Wilkie AO, Goriely A.
    Proc Natl Acad Sci U S A; 2013 Dec 10; 110(50):20152-7. PubMed ID: 24259709
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  • 34. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
    Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE.
    Am J Med Genet A; 2018 Aug 10; 176(8):1711-1722. PubMed ID: 30055033
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  • 35. Costello syndrome: Clinical phenotype, genotype, and management guidelines.
    Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA.
    Am J Med Genet A; 2019 Sep 10; 179(9):1725-1744. PubMed ID: 31222966
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  • 36. Early postnatal diagnosis of Costello syndrome.
    Kargl S, Meissl M, Pumberger W.
    Klin Padiatr; 2015 Jan 10; 227(1):45-7. PubMed ID: 25062109
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  • 37. Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.
    Schøler Nørgaard M, Mogra R, Pinner J, Kagan KO, Warming Jørgensen M, Gjørup V, Petersen OB, Sandager P, Vogel I.
    Ultrasound Obstet Gynecol; 2020 Feb 10; 55(2):274-275. PubMed ID: 30937994
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  • 38. De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.
    Nwakalor C, Said-Delgado S, Krinshpun S, Velinov M.
    Prenat Diagn; 2021 Jan 10; 41(1):11-14. PubMed ID: 32681669
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  • 40. Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
    Alfieri P, Caciolo C, Piccini G, D'Elia L, Valeri G, Menghini D, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S.
    Am J Med Genet B Neuropsychiatr Genet; 2015 Jan 10; 168B(1):66-71. PubMed ID: 25367099
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