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Journal Abstract Search

166 related items for PubMed ID: 12784297

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Williams syndrome and the elastin gene in Thai patients.
    Ruangdaraganon N, Tocharoentanaphol C, Kotchabhakdi N, Khowsathit P.
    J Med Assoc Thai; 1999 Nov 15; 82 Suppl 1():S174-8. PubMed ID: 10730539
    [Abstract] [Full Text] [Related]

  • 3. An investigation of voice quality in individuals with inherited elastin gene abnormalities.
    Watts CR, Awan SN, Marler JA.
    Clin Linguist Phon; 2008 Mar 15; 22(3):199-213. PubMed ID: 18307085
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 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. Autism and Williams syndrome: a case report.
    Herguner S, Mukaddes NM.
    World J Biol Psychiatry; 2006 Jan 16; 7(3):186-8. PubMed ID: 16861145
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Biomechanical Description of Phonation in Children Affected by Williams Syndrome.
    Hidalgo I, Gómez Vilda P, Garayzábal E.
    J Voice; 2018 Jul 23; 32(4):515.e15-515.e28. PubMed ID: 28779989
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 59(4):781-92. PubMed ID: 8808592
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Elastin gene deletions in Williams syndrome.
    Smoot LB.
    Curr Opin Pediatr; 1995 Dec 23; 7(6):698-701. PubMed ID: 8776022
    [Abstract] [Full Text] [Related]

  • 16. Elastin region deletions in Williams syndrome.
    Zhang J, Kumar A, Roux K, Williams CA, Wallace MR.
    Genet Test; 1999 Dec 23; 3(4):357-9. PubMed ID: 10627943
    [Abstract] [Full Text] [Related]

  • 17. 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 23; 173(8):2235-2239. PubMed ID: 28574231
    [Abstract] [Full Text] [Related]

  • 18. 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 Aug 23; 17(1):12-20. PubMed ID: 10720981
    [Abstract] [Full Text] [Related]

  • 19. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
    Brewer CM, Morrison N, Tolmie JL.
    Arch Dis Child; 1996 Jan 23; 74(1):59-61. PubMed ID: 8660051
    [Abstract] [Full Text] [Related]

  • 20. 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 23; 54(2):129-35. PubMed ID: 9761391
    [Abstract] [Full Text] [Related]

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