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Journal Abstract Search

289 related items for PubMed ID: 12427653

  • 1. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
    McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E.
    Circulation; 2002 Nov 12; 106(20):2567-74. PubMed ID: 12427653
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  • 2. JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
    Digilio MC, Luca AD, Lepri F, Guida V, Ferese R, Dentici ML, Angioni A, Marino B, Dallapiccola B.
    Am J Med Genet A; 2013 Dec 12; 161A(12):3133-6. PubMed ID: 23956173
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  • 3. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
    Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB.
    Hum Mutat; 2010 May 12; 31(5):594-601. PubMed ID: 20437614
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  • 4. Jagged-1 mutation analysis in Italian Alagille syndrome patients.
    Pilia G, Uda M, Macis D, Frau F, Crisponi L, Balli F, Barbera C, Colombo C, Frediani T, Gatti R, Iorio R, Marazzi MG, Marcellini M, Musumeci S, Nebbia G, Vajro P, Ruffa G, Zancan L, Cao A, DeVirgilis S.
    Hum Mutat; 1999 May 12; 14(5):394-400. PubMed ID: 10533065
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  • 12. The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.
    Kohsaka T, Yuan ZR, Guo SX, Tagawa M, Nakamura A, Nakano M, Kawasasaki H, Inomata Y, Tanaka K, Miyauchi J.
    Hepatology; 2002 Oct 12; 36(4 Pt 1):904-12. PubMed ID: 12297837
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  • 13. The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome.
    Yuan ZR, Okaniwa M, Nagata I, Tazawa Y, Ito M, Kawarazaki H, Inomata Y, Okano S, Yoshida T, Kobayashi N, Kohsaka T.
    Clin Genet; 2001 May 12; 59(5):330-7. PubMed ID: 11359464
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  • 14. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
    Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
    J Med Genet; 2010 May 12; 47(5):321-31. PubMed ID: 19948535
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  • 15. Jagged1 mutations in patients ascertained with isolated congenital heart defects.
    Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB.
    Am J Med Genet; 1999 May 07; 84(1):56-60. PubMed ID: 10213047
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  • 17. Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
    Dědič T, Jirsa M, Keil R, Rygl M, Šnajdauf J, Kotalová R.
    PLoS One; 2015 May 07; 10(11):e0143939. PubMed ID: 26618708
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