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Journal Abstract Search

209 related items for PubMed ID: 7611295

  • 1. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
    Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR.
    Am J Hum Genet; 1995 Jul; 57(1):49-53. PubMed ID: 7611295
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  • 2. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
    Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG.
    Am J Med Genet; 1998 Jun 16; 78(1):82-9. PubMed ID: 9637430
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  • 3. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.
    Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG.
    Am J Hum Genet; 1995 May 16; 56(5):1156-61. PubMed ID: 7726172
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  • 4. 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 16; 99(1):56-61. PubMed ID: 9003495
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  • 7. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
    Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A.
    Eur J Pediatr; 1995 Jun 16; 154(6):477-82. PubMed ID: 7545578
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  • 9. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.
    Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT.
    Hum Genet; 1998 Nov 16; 103(5):590-9. PubMed ID: 9860302
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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 16; 33(12):986-92. PubMed ID: 9004128
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  • 16. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome.
    Pérez Jurado LA, Li X, Francke U.
    Cytogenet Cell Genet; 1995 Dec 16; 70(3-4):246-9. PubMed ID: 7789182
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