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Journal Abstract Search

217 related items for PubMed ID: 12239725

  • 21. Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
    Yuan ZR, Kohsaka T, Ikegaya T, Suzuki T, Okano S, Abe J, Kobayashi N, Yamada M.
    Hum Mol Genet; 1998 Sep; 7(9):1363-9. PubMed ID: 9700188
    [Abstract] [Full Text] [Related]

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  • 23. Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
    Crosnier C, Driancourt C, Raynaud N, Hadchouel M, Meunier-Rotival M.
    Hum Mutat; 2001 Sep; 17(1):72-3. PubMed ID: 11139247
    [Abstract] [Full Text] [Related]

  • 24. Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
    Laufer-Cahana A, Krantz ID, Bason LD, Lu FM, Piccoli DA, Spinner NB.
    Am J Med Genet; 2002 Oct 01; 112(2):190-3. PubMed ID: 12244554
    [Abstract] [Full Text] [Related]

  • 25. Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor.
    Yuan ZR, Kobayashi N, Kohsaka T.
    J Mol Biol; 2006 Feb 24; 356(3):559-68. PubMed ID: 16403414
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12.
    Oda T, Elkahloun AG, Meltzer PS, Chandrasekharappa SC.
    Genomics; 1997 Aug 01; 43(3):376-9. PubMed ID: 9268641
    [Abstract] [Full Text] [Related]

  • 28. A novel JAG1 mutation in a patient with Alagille's syndrome.
    Wang Y, Yu Y, Wang J, Tsuei SH, Zaho L, Fu Q.
    Pathology; 2010 Aug 01; 42(5):496-8. PubMed ID: 20632836
    [No Abstract] [Full Text] [Related]

  • 29. Consequences of JAG1 mutations.
    Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.
    J Med Genet; 2003 Dec 01; 40(12):891-5. PubMed ID: 14684686
    [Abstract] [Full Text] [Related]

  • 30. The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.
    Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ.
    Hum Mol Genet; 1999 Dec 01; 8(13):2443-9. PubMed ID: 10556292
    [Abstract] [Full Text] [Related]

  • 31. Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.
    Ziesenitz VC, Loukanov T, Gläser C, Gorenflo M.
    Cardiol Young; 2016 Jan 01; 26(1):164-7. PubMed ID: 25613755
    [Abstract] [Full Text] [Related]

  • 32. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
    Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez-Lara PA, Piccoli DA, Krantz ID, Spinner NB.
    Hum Mutat; 2006 May 01; 27(5):436-43. PubMed ID: 16575836
    [Abstract] [Full Text] [Related]

  • 33. JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype.
    Jones EA, Clement-Jones M, Wilson DI.
    J Med Genet; 2000 Sep 01; 37(9):658-62. PubMed ID: 10978356
    [Abstract] [Full Text] [Related]

  • 34. Craniosynostosis in Alagille syndrome.
    Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID.
    Am J Med Genet; 2002 Oct 01; 112(2):176-80. PubMed ID: 12244552
    [Abstract] [Full Text] [Related]

  • 35. Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.
    Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M.
    Hum Mol Genet; 2007 Nov 15; 16(22):2683-92. PubMed ID: 17720887
    [Abstract] [Full Text] [Related]

  • 36. 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 15; 59(5):330-7. PubMed ID: 11359464
    [Abstract] [Full Text] [Related]

  • 37. Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.
    Stankiewicz P, Rujner J, Löffler C, Krüger A, Nimmakayalu M, Piłacik B, Krajewska-Walasek M, Gutkowska A, Hansmann I, Giannakudis I.
    Am J Med Genet; 2001 Oct 01; 103(2):166-71. PubMed ID: 11568926
    [Abstract] [Full Text] [Related]

  • 38. Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders.
    Bourdeaut F, Guiochon-Mantel A, Fabre M, Martelli H, Patte C, Porta G, Bernard O, Delattre O, Jacquemin E.
    Pediatr Blood Cancer; 2008 Apr 01; 50(4):908-11. PubMed ID: 17584876
    [Abstract] [Full Text] [Related]

  • 39. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
    Lu F, Morrissette JJ, Spinner NB.
    Am J Hum Genet; 2003 Apr 01; 72(4):1065-70. PubMed ID: 12649809
    [Abstract] [Full Text] [Related]

  • 40. Jagged1 (JAG1): Structure, expression, and disease associations.
    Grochowski CM, Loomes KM, Spinner NB.
    Gene; 2016 Jan 15; 576(1 Pt 3):381-4. PubMed ID: 26548814
    [Abstract] [Full Text] [Related]

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