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Journal Abstract Search


111 related items for PubMed ID: 7789956

  • 1. 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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  • 2. Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.
    Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA.
    Am J Hum Genet; 1994 Aug; 55(2):238-43. PubMed ID: 8037203
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  • 3. 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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  • 4. Linkage analysis and identification of deletion in Alagille syndrome gene.
    Yuan ZR, Kohsaka T, Kobayashi N.
    Acta Paediatr Jpn; 1997 Dec; 39(6):647-52. PubMed ID: 9447751
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  • 5. Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization.
    Krantz ID, Rand EB, Genin A, Hunt P, Jones M, Louis AA, Graham JM, Bhatt S, Piccoli DA, Spinner NB.
    Am J Med Genet; 1997 May 02; 70(1):80-6. PubMed ID: 9129746
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  • 6. 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 02; 16(1):92. PubMed ID: 10874319
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  • 8. 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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  • 9. Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.
    Pollet N, Dhorne-Pollet S, Deleuze JF, Boccaccio C, Driancourt C, Raynaud N, Le Paslier D, Hadchouel M, Meunier-Rotival M.
    Genomics; 1995 Jun 10; 27(3):467-74. PubMed ID: 7558028
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  • 14. Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.
    Deleuze JF, Dhorne S, Hazan J, Borghi E, Raynaud N, Pollet N, Meunier-Rotival M, Deschatrette J, Alagille D, Hadchouel M.
    Mamm Genome; 1994 Nov 10; 5(11):663-9. PubMed ID: 7873876
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  • 17. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
    Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N.
    Eur J Hum Genet; 2000 Jul 10; 8(7):535-9. PubMed ID: 10909854
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  • 19. 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 10; 16(3):235-42. PubMed ID: 9207787
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  • 20. First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.
    Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY.
    Invest Ophthalmol Vis Sci; 2002 Aug 10; 43(8):2540-5. PubMed ID: 12147582
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