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Journal Abstract Search

411 related items for PubMed ID: 9466987

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  • 5. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.
    Pérez Jurado LA, Wang YK, Francke U, Cruces J.
    Cytogenet Cell Genet; 1999; 86(3-4):277-84. PubMed ID: 10575226
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  • 6. WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.
    de Luis O, Valero MC, Jurado LA.
    Eur J Hum Genet; 2000 Mar; 8(3):215-22. PubMed ID: 10780788
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  • 8. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
    Doll A, Grzeschik KH.
    Cytogenet Cell Genet; 2001 Mar; 95(1-2):20-7. PubMed ID: 11978965
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  • 15. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
    Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D.
    Proc Natl Acad Sci U S A; 2004 Jul 27; 101(30):11052-7. PubMed ID: 15243160
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  • 16. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
    J Med Genet; 2010 May 27; 47(5):312-20. PubMed ID: 19897463
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  • 18. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
    Peoples RJ, Cisco MJ, Kaplan P, Francke U.
    Cytogenet Cell Genet; 1998 May 27; 82(3-4):238-46. PubMed ID: 9858827
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  • 19. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
    Pérez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U.
    Am J Hum Genet; 1996 Oct 27; 59(4):781-92. PubMed ID: 8808592
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  • 20. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
    Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K.
    Eur J Hum Genet; 1999 Oct 27; 7(7):737-47. PubMed ID: 10573005
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