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Journal Abstract Search

578 related items for PubMed ID: 9207787

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  • 3. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
    Heritage ML, MacMillan JC, Colliton RP, Genin A, Spinner NB, Anderson GJ.
    Hum Mutat; 2000 Nov; 16(5):408-16. PubMed ID: 11058898
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  • 5. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
    Röpke A, Kujat A, Gräber M, Giannakudis J, Hansmann I.
    Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497640
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  • 6. 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
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  • 7. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
    Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB.
    Hum Mutat; 2001 Feb 01; 17(2):151-2. PubMed ID: 11180599
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  • 8. 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 01; 7(9):1363-9. PubMed ID: 9700188
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  • 9. DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
    Heritage ML, MacMillan JC, Anderson GJ.
    Hum Mutat; 2002 Dec 01; 20(6):481. PubMed ID: 12442286
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  • 10. Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2).
    Oda T, Elkahloun AG, Meltzer PS, Okajima K, Sugiyama K, Wada Y, Chandrasekharappa SC.
    Hum Mutat; 2000 Jul 01; 16(1):92. PubMed ID: 10874319
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  • 11. 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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  • 12. [From gene to disease: arteriohepatic dysplasia or Alagille syndrome].
    Brooks AS, Dooijes D.
    Ned Tijdschr Geneeskd; 2003 Jun 21; 147(25):1213-5. PubMed ID: 12848056
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  • 13. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
    Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB.
    Am J Hum Genet; 1998 Jun 21; 62(6):1361-9. PubMed ID: 9585603
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  • 14. Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.
    Onouchi Y, Kurahashi H, Tajiri H, Ida S, Okada S, Nakamura Y.
    J Hum Genet; 1999 Jun 21; 44(4):235-9. PubMed ID: 10429362
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  • 15. 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
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  • 16. 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
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  • 17. Clinical and molecular genetics of Alagille syndrome.
    Krantz ID, Piccoli DA, Spinner NB.
    Curr Opin Pediatr; 1999 Dec 24; 11(6):558-64. PubMed ID: 10590916
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  • 18. Alagille syndrome and the Jagged1 gene.
    Piccoli DA, Spinner NB.
    Semin Liver Dis; 2001 Nov 24; 21(4):525-34. PubMed ID: 11745040
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  • 19. 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 24; 27(5):436-43. PubMed ID: 16575836
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  • 20. A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.
    Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C.
    Eur J Med Genet; 2008 May 24; 51(6):651-7. PubMed ID: 18775522
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