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Journal Abstract Search

145 related items for PubMed ID: 8776022

  • 1. Elastin gene deletions in Williams syndrome.
    Smoot LB.
    Curr Opin Pediatr; 1995 Dec; 7(6):698-701. PubMed ID: 8776022
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  • 2. FISH analysis in patients with clinical diagnosis of Williams syndrome.
    Elçioglu N, Mackie-Ogilvie C, Daker M, Berry AC.
    Acta Paediatr; 1998 Jan; 87(1):48-53. PubMed ID: 9510447
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  • 3. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.
    Urbán Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csiszár K.
    Pediatr Dermatol; 2000 Jan; 17(1):12-20. PubMed ID: 10720981
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  • 4. 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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  • 5. 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; 33(12):986-92. PubMed ID: 9004128
    [Abstract] [Full Text] [Related]

  • 6. Elastin region deletions in Williams syndrome.
    Zhang J, Kumar A, Roux K, Williams CA, Wallace MR.
    Genet Test; 1999 Dec; 3(4):357-9. PubMed ID: 10627943
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  • 7. Williams syndrome and related disorders.
    Morris CA, Mervis CB.
    Annu Rev Genomics Hum Genet; 2000 Dec; 1():461-84. PubMed ID: 11701637
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  • 10. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
    Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT.
    Nat Genet; 1993 Sep; 5(1):11-6. PubMed ID: 7693128
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  • 11. 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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  • 13. Genetic aspects of supravalvular aortic stenosis.
    Morris CA.
    Curr Opin Cardiol; 1998 May 15; 13(3):214-9. PubMed ID: 9649945
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  • 14. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
    Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A.
    Am J Hum Genet; 2002 Jul 15; 71(1):30-44. PubMed ID: 12016585
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  • 15. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
    Dutly F, Schinzel A.
    Hum Mol Genet; 1996 Dec 15; 5(12):1893-8. PubMed ID: 8968740
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  • 20. Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.
    Wint DP, Butman JA, Masdeu JC, Meyer-Lindenberg A, Mervis CB, Sarpal D, Morris CA, Berman KF.
    AJNR Am J Neuroradiol; 2014 Jan 15; 35(1):90-4. PubMed ID: 23868161
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