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Journal Abstract Search

218 related items for PubMed ID: 9637430

  • 21. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.
    Mizugishi K, Yamanaka K, Kuwajima K, Kondo I.
    J Hum Genet; 1998; 43(3):178-81. PubMed ID: 9747030
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  • 22. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW, Wang JK, Wang TR.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515
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  • 27. Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.
    Vaux KK, Wojtczak H, Benirschke K, Jones KL.
    Am J Med Genet A; 2003 Jun 15; 119A(3):302-4. PubMed ID: 12784297
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  • 28. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
    Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F.
    Med Clin (Barc); 1999 Jun 19; 113(2):46-9. PubMed ID: 10425618
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  • 29. 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 19; 33(12):986-92. PubMed ID: 9004128
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  • 33. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
    Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA.
    Am J Med Genet A; 2017 Aug 19; 173(8):2235-2239. PubMed ID: 28574231
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  • 34. 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 19; 154(6):477-82. PubMed ID: 7545578
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  • 35. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
    Fryssira H, Palmer R, Hallidie-Smith KA, Taylor J, Donnai D, Reardon W.
    J Med Genet; 1997 Apr 19; 34(4):306-8. PubMed ID: 9138154
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  • 36. Williams-Beuren syndrome: diagnosis by polymorphic markers.
    Sbruzzi IC, Pereira AC, Vasconcelos B, Honjo RS, Krieger JE, Kim CA.
    Genet Test Mol Biomarkers; 2010 Apr 19; 14(2):209-14. PubMed ID: 20136526
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  • 38. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
    Dutra RL, Pieri Pde C, Teixeira AC, Honjo RS, Bertola DR, Kim CA.
    Clinics (Sao Paulo); 2011 Apr 19; 66(6):959-64. PubMed ID: 21808859
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