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Journal Abstract Search


217 related items for PubMed ID: 12239725

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  • 6. 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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  • 7. 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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  • 8. 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 07; 14(5):394-400. PubMed ID: 10533065
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  • 9. 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 07; 9(3):209-16. PubMed ID: 11313761
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  • 10. Alagille syndrome and the Jagged1 gene.
    Piccoli DA, Spinner NB.
    Semin Liver Dis; 2001 Nov 07; 21(4):525-34. PubMed ID: 11745040
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  • 11. [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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  • 12. Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
    Boyer J, Crosnier C, Driancourt C, Raynaud N, Gonzales M, Hadchouel M, Meunier-Rotival M.
    Hum Genet; 2005 May 21; 116(6):445-53. PubMed ID: 15772854
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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. 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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  • 15. Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
    Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC.
    Nat Genet; 1997 Jul 21; 16(3):235-42. PubMed ID: 9207787
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  • 16. JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.
    Crosnier C, Attié-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M.
    Hepatology; 2000 Sep 21; 32(3):574-81. PubMed ID: 10960452
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  • 17. Jagged1 mutations in alagille syndrome.
    Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M.
    Hum Mutat; 2001 Sep 21; 17(1):18-33. PubMed ID: 11139239
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  • 18. 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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  • 19. Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.
    Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M.
    Clin Liver Dis; 2000 Nov 21; 4(4):765-78. PubMed ID: 11232356
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  • 20. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
    Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB.
    Nat Genet; 1997 Jul 21; 16(3):243-51. PubMed ID: 9207788
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