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Journal Abstract Search

134 related items for PubMed ID: 9761391

  • 1. A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome.
    del Rio T, Urbán Z, Csiszár K, Boyd CD.
    Clin Genet; 1998 Aug; 54(2):129-35. PubMed ID: 9761391
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  • 2. 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; 59(4):781-92. PubMed ID: 8808592
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  • 3. [Genetic diagnosis of Williams syndrome].
    Urbán Z, Kiss E, Kádár K, Szabolcs J, Csiszár K, Boyd DC, Fekete G.
    Orv Hetil; 1997 Jul 06; 138(27):1749-52. PubMed ID: 9273487
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  • 5. Molecular cytogenetic diagnosis of Williams syndrome.
    Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K.
    Am J Med Genet; 1996 Aug 23; 64(3):473-7. PubMed ID: 8862624
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  • 6. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
    Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik KH.
    Eur J Hum Genet; 2002 Jun 23; 10(6):351-61. PubMed ID: 12080386
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  • 7. FISH analysis in patients with clinical diagnosis of Williams syndrome.
    Elçioglu N, Mackie-Ogilvie C, Daker M, Berry AC.
    Acta Paediatr; 1998 Jan 23; 87(1):48-53. PubMed ID: 9510447
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  • 10. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
    Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR.
    J Med Genet; 1996 Dec 23; 33(12):986-92. PubMed ID: 9004128
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  • 16. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
    Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B.
    Hum Genet; 1995 Oct 23; 96(4):444-8. PubMed ID: 7557968
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  • 17. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
    Dutly F, Schinzel A.
    Hum Mol Genet; 1996 Dec 23; 5(12):1893-8. PubMed ID: 8968740
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  • 18. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
    Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N.
    Hum Genet; 1997 Jan 23; 99(1):56-61. PubMed ID: 9003495
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  • 19. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
    Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD.
    Am J Med Genet A; 2003 Nov 15; 123A(1):45-59. PubMed ID: 14556246
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  • 20. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
    Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U.
    Hum Mol Genet; 1998 Mar 15; 7(3):325-34. PubMed ID: 9466987
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