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PUBMED FOR HANDHELDS

Journal Abstract Search


145 related items for PubMed ID: 30450763

  • 21.
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  • 22. A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
    Aukema SM, Ten Brinke GA, Timens W, Vos YJ, Accord RE, Kraft KE, Santing MJ, Morssink LP, Streefland E, van Diemen CC, Vrijlandt EJ, Hulzebos CV, Kerstjens-Frederikse WS.
    Am J Med Genet A; 2020 Sep; 182(9):2152-2160. PubMed ID: 32618121
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  • 23. Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics.
    Menon J, Venkatesh V, Thirunavukkarasu B, Lal SB.
    BMJ Case Rep; 2019 Jul 19; 12(7):. PubMed ID: 31326900
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  • 24. Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.
    Betterman KL, Sutton DL, Secker GA, Kazenwadel J, Oszmiana A, Lim L, Miura N, Sorokin L, Hogan BM, Kahn ML, McNeill H, Harvey NL.
    J Clin Invest; 2020 Jun 01; 130(6):3315-3328. PubMed ID: 32182215
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  • 25. In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
    Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V.
    BMC Bioinformatics; 2023 Jun 15; 24(1):251. PubMed ID: 37322437
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  • 27. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
    Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN.
    PLoS One; 2013 Jun 15; 8(9):e75770. PubMed ID: 24086631
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  • 32. Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report.
    Pujol F, Hodgson T, Martinez-Corral I, Prats AC, Devenport D, Takeichi M, Genot E, Mäkinen T, Francis-West P, Garmy-Susini B, Tatin F.
    Arterioscler Thromb Vasc Biol; 2017 Sep 15; 37(9):1732-1735. PubMed ID: 28705793
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  • 37. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
    Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.
    Nat Commun; 2015 Sep 03; 6():8085. PubMed ID: 26333996
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