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Journal Abstract Search

136 related items for PubMed ID: 8486353

  • 1. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene).
    Lu-Kuo J, Ward DC, Spritz RA.
    Genomics; 1993 Apr; 16(1):173-9. PubMed ID: 8486353
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  • 2. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.
    Hughes AE, Newton VE, Liu XZ, Read AP.
    Nat Genet; 1994 Aug; 7(4):509-12. PubMed ID: 7951321
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  • 3. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.
    Dow E, Cross S, Wolgemuth DJ, Lyonnet S, Mulligan LM, Mascari M, Ladda R, Williamson R.
    Am J Med Genet; 1994 Oct 15; 53(1):75-80. PubMed ID: 7802041
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  • 4. A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
    Pierpont JW, Doolan LD, Amann K, Snead GR, Erickson RP.
    Hum Mutat; 1994 Oct 15; 4(3):227-8. PubMed ID: 7833953
    [No Abstract] [Full Text] [Related]

  • 5. Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
    Selicorni A, Guerneri S, Ratti A, Pizzuti A.
    Hum Genet; 2002 Jan 15; 110(1):64-7. PubMed ID: 11810298
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  • 13. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
    Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N.
    Am J Med Genet; 1989 Aug 15; 33(4):505-7. PubMed ID: 2596512
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  • 14. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
    Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH.
    Nat Genet; 1996 Apr 15; 12(4):445-7. PubMed ID: 8630503
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  • 16. Genetic recombinational and physical linkage analyses on slash pine.
    Doudrick RL.
    Symp Soc Exp Biol; 1996 Apr 15; 50():53-60. PubMed ID: 9039434
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  • 17. Localization of the gene encoding a neutral amino acid transporter-like protein to human chromosome band 19q13.3 and characterization of a simple sequence repeat DNA polymorphism.
    Jones EM, Menzel S, Espinosa R, Le Beau MM, Bell GI, Takeda J.
    Genomics; 1994 Sep 15; 23(2):490-1. PubMed ID: 7835902
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