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Journal Abstract Search


84 related items for PubMed ID: 1303254

  • 1.
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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. [Waardenburg's syndrome].
    Cacheux V, Delezoide AL, Vekemans M.
    C R Seances Soc Biol Fil; 1996 Aug; 190(5-6):577-80. PubMed ID: 9074723
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  • 6. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
    Tassabehji M, Newton VE, Read AP.
    Nat Genet; 1994 Nov; 8(3):251-5. PubMed ID: 7874167
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  • 7. Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review.
    da-Silva EO.
    Am J Med Genet; 1991 Jul 01; 40(1):65-74. PubMed ID: 1887852
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  • 11. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
    Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M.
    Nat Genet; 1998 Feb 01; 18(2):171-3. PubMed ID: 9462749
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  • 13. 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 01; 16(1):173-9. PubMed ID: 8486353
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  • 14. [Waardenburg's syndrome (type II) in 2 children, without parental involvement: genetic counseling].
    Dodinval P, Lhussier-Grodos TM.
    J Genet Hum; 1981 Sep 01; 29(3):273-84. PubMed ID: 7334349
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  • 16. Inter-oculo-irido-auditory dysplasia. (Waardenburg, van der Hoeve, Halberstsma syndrome).
    Mohamed MA.
    Bull Ophthalmol Soc Egypt; 1971 Sep 01; 64(68):333-7. PubMed ID: 5005251
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  • 17. Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
    Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M.
    Clin Genet; 2004 May 01; 65(5):384-9. PubMed ID: 15099345
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  • 18. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.
    Lalwani AK, Attaie A, Randolph FT, Deshmukh D, Wang C, Mhatre A, Wilcox E.
    Am J Med Genet; 1998 Dec 04; 80(4):406-9. PubMed ID: 9856573
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  • 20. [New observation of the severe form of the Klein-Waardenburg syndrome].
    Wilbrandt HR, Ammann F.
    Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg; 1964 Dec 04; 39(1-4):80-92. PubMed ID: 5899973
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