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Journal Abstract Search

149 related items for PubMed ID: 8071971

  • 1. Segregation analysis of Alagille syndrome.
    Dhorne-Pollet S, Deleuze JF, Hadchouel M, Bonaïti-Pellié C.
    J Med Genet; 1994 Jun; 31(6):453-7. PubMed ID: 8071971
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  • 2. Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
    Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R.
    Am J Hum Genet; 1995 Nov; 57(5):1068-73. PubMed ID: 7485156
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  • 3. Alagille syndrome: family studies.
    Elmslie FV, Vivian AJ, Gardiner H, Hall C, Mowat AP, Winter RM.
    J Med Genet; 1995 Apr; 32(4):264-8. PubMed ID: 7643353
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  • 4. 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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  • 5. Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.
    Hol FA, Hamel BC, Geurds MP, Hansmann I, Nabben FA, Daniëls O, Mariman EC.
    Hum Genet; 1995 Jun; 95(6):687-90. PubMed ID: 7789956
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  • 6. Consequences of JAG1 mutations.
    Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.
    J Med Genet; 2003 Dec; 40(12):891-5. PubMed ID: 14684686
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  • 12. Alagille syndrome in a family with duplication 20p11.
    Moog U, Engelen J, Albrechts J, Hoorntje T, Hendrikse F, Schrander-Stumpel C.
    Clin Dysmorphol; 1996 Oct; 5(4):279-88. PubMed ID: 8905191
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  • 13. Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome.
    Pollet N, Boccaccio C, Dhorne-Pollet S, Driancourt C, Raynaud N, Auffray C, Hadchouel M, Meunier-Rotival M.
    Genomics; 1997 Jun 15; 42(3):489-98. PubMed ID: 9205123
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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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  • 16. Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).
    Li PH, Shu SG, Yang CH, Lo FC, Wen MC, Chi CS.
    Am J Med Genet; 1996 Jun 28; 63(4):537-41. PubMed ID: 8826431
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  • 18. Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
    Cho JM, Oh SH, Kim HJ, Kim JS, Kim KM, Kim GH, Yu E, Lee BH, Yoo HW.
    Pediatr Int; 2015 Aug 28; 57(4):552-7. PubMed ID: 25676721
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  • 20. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.
    Niikawa N, Ishikiriyama S, Takahashi S, Inagawa A, Tonoki H, Ohta Y, Hase N, Kamei T, Kajii T.
    Am J Med Genet; 1986 May 28; 24(1):41-55. PubMed ID: 3706412
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