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138 related items for PubMed ID: 19460468

  • 1. 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.
    Li F, Lisi EC, Wohler ES, Hamosh A, Batista DA.
    Eur J Med Genet; 2009; 52(5):349-52. PubMed ID: 19460468
    [Abstract] [Full Text] [Related]

  • 2. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
    Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S.
    Eur J Med Genet; 2009; 52(2-3):128-30. PubMed ID: 19298871
    [Abstract] [Full Text] [Related]

  • 3. 1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.
    Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW.
    Eur J Med Genet; 2010; 53(6):415-8. PubMed ID: 20832509
    [Abstract] [Full Text] [Related]

  • 4. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
    Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO.
    Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
    [Abstract] [Full Text] [Related]

  • 5. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.
    Eur J Med Genet; 2009 Feb; 52(5):358-62. PubMed ID: 19576304
    [Abstract] [Full Text] [Related]

  • 6. Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
    Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E.
    Cytogenet Genome Res; 2007 Feb; 119(1-2):158-64. PubMed ID: 18160797
    [Abstract] [Full Text] [Related]

  • 7. 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 Feb; 54(3):314-8. PubMed ID: 21315189
    [Abstract] [Full Text] [Related]

  • 8. 3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report.
    Kaba D, Çelik ZY.
    Turk J Pediatr; 2022 Feb; 64(5):925-931. PubMed ID: 36305444
    [Abstract] [Full Text] [Related]

  • 9. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
    Shimojima K, Páez MT, Kurosawa K, Yamamoto T.
    Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
    [Abstract] [Full Text] [Related]

  • 10. [Subvalvular aortic stenosis associated with 8p23 deletion].
    Aguiar P, Cruz D, Ferro Rodrigues R, Araújo F, Ducla Soares JL.
    Rev Port Cardiol; 2013 Feb; 32(2):153-7. PubMed ID: 23352459
    [Abstract] [Full Text] [Related]

  • 11. Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.
    Clayton-Smith J, Giblin C, Smith RA, Dunn C, Willatt L.
    Clin Dysmorphol; 2010 Jul; 19(3):128-132. PubMed ID: 20453639
    [Abstract] [Full Text] [Related]

  • 12. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
    Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.
    J Med Genet; 2009 Sep; 46(9):635-40. PubMed ID: 19126570
    [Abstract] [Full Text] [Related]

  • 13. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
    Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K.
    Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
    [Abstract] [Full Text] [Related]

  • 14. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
    Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM.
    Eur J Med Genet; 2009 Mar; 52(5):353-7. PubMed ID: 19464398
    [Abstract] [Full Text] [Related]

  • 15. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.
    Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.
    Eur J Med Genet; 2009 Mar; 52(2-3):140-4. PubMed ID: 19328248
    [Abstract] [Full Text] [Related]

  • 16. The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.
    Dasouki MJ, Lushington GH, Hovanes K, Casey J, Gorre M.
    Am J Med Genet A; 2011 Jul; 155A(7):1654-60. PubMed ID: 21626679
    [Abstract] [Full Text] [Related]

  • 17. Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
    Dasouki M, Roberts J, Santiago A, Saadi I, Hovanes K.
    Eur J Med Genet; 2014 Feb; 57(2-3):76-80. PubMed ID: 24462885
    [Abstract] [Full Text] [Related]

  • 18. Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome.
    Velagaleti GV, Kumar A, Lockhart LH, Matalon R.
    Ann Genet; 2000 Feb; 43(2):105-7. PubMed ID: 10998453
    [Abstract] [Full Text] [Related]

  • 19. 3q29 interstitial microduplication: a new syndrome in a three-generation family.
    Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA.
    Am J Med Genet A; 2008 Mar 01; 146A(5):601-9. PubMed ID: 18241066
    [Abstract] [Full Text] [Related]

  • 20. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
    Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA.
    Am J Med Genet A; 2010 Oct 01; 152A(10):2459-67. PubMed ID: 20830797
    [Abstract] [Full Text] [Related]

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