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Journal Abstract Search

266 related items for PubMed ID: 9546825

  • 1. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
    Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM.
    Clin Dysmorphol; 1998 Jan; 7(1):17-20. PubMed ID: 9546825
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  • 2. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.
    Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG.
    Nat Genet; 1994 Nov; 8(3):256-63. PubMed ID: 7874168
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  • 3. 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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  • 4. Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.
    Hershey CL, Fisher DE.
    Gene; 2005 Feb 28; 347(1):73-82. PubMed ID: 15715979
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  • 5. Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
    Yokoyama S, Takeda K, Shibahara S.
    J Biochem; 2006 Oct 28; 140(4):491-9. PubMed ID: 16921166
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  • 6. 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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  • 7. The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.
    Jacquemin P, Lannoy VJ, O'Sullivan J, Read A, Lemaigre FP, Rousseau GG.
    Biochem Biophys Res Commun; 2001 Aug 03; 285(5):1200-5. PubMed ID: 11478782
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  • 14. 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 03; 18(2):171-3. PubMed ID: 9462749
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  • 15. A novel MITF splice site mutation in a family with Waardenburg syndrome.
    Monma F, Hozumi Y, Kawaguchi M, Katagiri Y, Watanabe T, Yoshihiko I, Suzuki T.
    J Dermatol Sci; 2008 Oct 03; 52(1):64-6. PubMed ID: 18595666
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  • 20. [A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II].
    Feng Y, Liu ZZ, Hu H.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2007 Oct 03; 42(10):787-8. PubMed ID: 18229597
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