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Journal Abstract Search

272 related items for PubMed ID: 11313761

  • 1. Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
    Giannakudis J, Röpke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D, Schlicker M, Hansmann I.
    Eur J Hum Genet; 2001 Mar; 9(3):209-16. PubMed ID: 11313761
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  • 2. 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 Mar; 14(5):394-400. PubMed ID: 10533065
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  • 3. [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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  • 4. 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 21; 17(2):151-2. PubMed ID: 11180599
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  • 5. 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 21; 7(9):1363-9. PubMed ID: 9700188
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  • 8. 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 Sep 21; 44(4):235-9. PubMed ID: 10429362
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  • 11. Consequences of JAG1 mutations.
    Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.
    J Med Genet; 2003 Dec 21; 40(12):891-5. PubMed ID: 14684686
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  • 12. 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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  • 13. 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 21; 36(4 Pt 1):904-12. PubMed ID: 12297837
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  • 19. Clinical and molecular genetics of Alagille syndrome.
    Krantz ID, Piccoli DA, Spinner NB.
    Curr Opin Pediatr; 1999 Dec 21; 11(6):558-64. PubMed ID: 10590916
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  • 20. 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
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