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Journal Abstract Search

172 related items for PubMed ID: 9747030

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

  • 2. Infantile spasms in two children with Williams syndrome.
    Tsao CY, Westman JA.
    Am J Med Genet; 1997 Jul 11; 71(1):54-6. PubMed ID: 9215769
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
    Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A.
    Am J Med Genet A; 2010 Feb 15; 152A(2):434-7. PubMed ID: 20101691
    [Abstract] [Full Text] [Related]

  • 5. [Genetic diagnosis of Williams syndrome].
    Urbán Z, Kiss E, Kádár K, Szabolcs J, Csiszár K, Boyd DC, Fekete G.
    Orv Hetil; 1997 Jul 06; 138(27):1749-52. PubMed ID: 9273487
    [Abstract] [Full Text] [Related]

  • 6. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
    Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B.
    J Med Genet; 1999 Jun 06; 36(6):478-80. PubMed ID: 10874638
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 59(4):781-92. PubMed ID: 8808592
    [Abstract] [Full Text] [Related]

  • 8. [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
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Occurrence of anaplastic oligodendroglioma in a patient with Williams syndrome: a case report with analysis of mutational profile of tumor.
    Omalu BI, Nnebe-Agumadu UH.
    Niger J Clin Pract; 2009 Jun 01; 12(2):200-4. PubMed ID: 19764675
    [Abstract] [Full Text] [Related]

  • 12. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
    Tüysüz B, Demirel A, Uysal S, Beyer V, Bartsch O.
    Genet Couns; 2008 Jun 01; 19(1):29-35. PubMed ID: 18564498
    [Abstract] [Full Text] [Related]

  • 13. [Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
    van Hagen JM, Govaerts LC, de Coo IF, Gille JJ, Nieuwint AW, Madan K.
    Ned Tijdschr Geneeskd; 2001 Mar 03; 145(9):396-400. PubMed ID: 11253493
    [Abstract] [Full Text] [Related]

  • 14. Infantile spasms in a patient with williams syndrome and craniosynostosis.
    Morimoto M, An B, Ogami A, Shin N, Sugino Y, Sawai Y, Usuku T, Tanaka M, Hirai K, Nishimura A, Hasegawa K, Sugimoto T.
    Epilepsia; 2003 Nov 03; 44(11):1459-62. PubMed ID: 14636357
    [Abstract] [Full Text] [Related]

  • 15. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
    Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.
    Genesis; 2010 Apr 03; 48(4):233-43. PubMed ID: 20146355
    [Abstract] [Full Text] [Related]

  • 16. 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 03; 99(1):56-61. PubMed ID: 9003495
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. [Williams syndrome without cardiovascular abnormalities].
    Cincinnati P, Genuardi M, Rutiloni C.
    Minerva Pediatr; 1998 Nov 16; 50(11):467-71. PubMed ID: 10207296
    [Abstract] [Full Text] [Related]

  • 19. Infantile spasms associated with 5q14.3 deletion.
    Marashly A, Riel-Romero RM, Ursin S, Ghawi H.
    J La State Med Soc; 2010 Nov 16; 162(4):223-6. PubMed ID: 20882816
    [Abstract] [Full Text] [Related]

  • 20. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.
    Balasubramanian M, Smith K, Mordekar SR, Parker MJ.
    Eur J Med Genet; 2011 Nov 16; 54(3):314-8. PubMed ID: 21315189
    [Abstract] [Full Text] [Related]

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