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Journal Abstract Search

114 related items for PubMed ID: 7789182

  • 1. 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; 70(3-4):246-9. PubMed ID: 7789182
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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 16; 57(1):49-53. PubMed ID: 7611295
    [Abstract] [Full Text] [Related]

  • 4. 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 16; 59(4):781-92. PubMed ID: 8808592
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Alternative splicing of a 48-nucleotide exon generates two isoforms of the human calcitonin receptor.
    Nussenzveig DR, Mathew S, Gershengorn MC.
    Endocrinology; 1995 May 16; 136(5):2047-51. PubMed ID: 7720653
    [Abstract] [Full Text] [Related]

  • 7. Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.
    DeSilva U, Massa H, Trask BJ, Green ED.
    Genome Res; 1999 May 16; 9(5):428-36. PubMed ID: 10330122
    [Abstract] [Full Text] [Related]

  • 8. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
    Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC.
    Genomics; 1996 Sep 01; 36(2):328-36. PubMed ID: 8812460
    [Abstract] [Full Text] [Related]

  • 9. Autism and Williams syndrome: a case report.
    Herguner S, Mukaddes NM.
    World J Biol Psychiatry; 2006 Sep 01; 7(3):186-8. PubMed ID: 16861145
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 23; 56(5):1156-61. PubMed ID: 7726172
    [Abstract] [Full Text] [Related]

  • 12. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
    Hou JW, Wang JK, Wang TR.
    J Formos Med Assoc; 1997 Feb 23; 96(2):137-40. PubMed ID: 9071842
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 103(5):590-9. PubMed ID: 9860302
    [Abstract] [Full Text] [Related]

  • 14. A complete physical contig and partial transcript map of the Williams syndrome critical region.
    Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M.
    Genomics; 1999 Jun 01; 58(2):138-45. PubMed ID: 10366445
    [Abstract] [Full Text] [Related]

  • 15. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.
    Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A.
    Genomics; 1996 May 15; 34(1):17-23. PubMed ID: 8661020
    [Abstract] [Full Text] [Related]

  • 16. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
    Leme DE, Souza DH, Mercado G, Pastene E, Dias A, Moretti-Ferreira D.
    Genet Mol Res; 2013 Sep 04; 12(3):3407-11. PubMed ID: 24065682
    [Abstract] [Full Text] [Related]

  • 17. A novel human gene, WSTF, is deleted in Williams syndrome.
    Lu X, Meng X, Morris CA, Keating MT.
    Genomics; 1998 Dec 01; 54(2):241-9. PubMed ID: 9828126
    [Abstract] [Full Text] [Related]

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