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Journal Abstract Search

110 related items for PubMed ID: 16817353

  • 21. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
    [Abstract] [Full Text] [Related]

  • 22. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.
    Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B.
    Dev Disabil Res Rev; 2008; 14(1):35-42. PubMed ID: 18636635
    [Abstract] [Full Text] [Related]

  • 23. Executive functions and memory abilities in children with 22q11.2 deletion syndrome.
    Campbell LE, Azuma R, Ambery F, Stevens A, Smith A, Morris RG, Murphy DG, Murphy KC.
    Aust N Z J Psychiatry; 2010 Apr; 44(4):364-71. PubMed ID: 20307169
    [Abstract] [Full Text] [Related]

  • 24. Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review.
    Zinkstok J, van Amelsvoort T.
    Child Neuropsychol; 2005 Feb; 11(1):21-37. PubMed ID: 15823981
    [Abstract] [Full Text] [Related]

  • 25. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
    Stoller JZ, Epstein JA.
    Hum Mol Genet; 2005 Apr 01; 14(7):885-92. PubMed ID: 15703190
    [Abstract] [Full Text] [Related]

  • 26. Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
    Cotter PD, Nguyen H, Tung G, Rauen KA.
    Eur J Hum Genet; 2005 Dec 01; 13(12):1245-6. PubMed ID: 16175191
    [No Abstract] [Full Text] [Related]

  • 27. Wrapping up DiGeorge syndrome in a T-box?
    Kim MS, Basson CT.
    Pediatr Res; 2001 Sep 01; 50(3):307-8. PubMed ID: 11518813
    [No Abstract] [Full Text] [Related]

  • 28. Neuroimaging correlates of 22q11.2 deletion syndrome: implications for schizophrenia research.
    Boot E, van Amelsvoort TA.
    Curr Top Med Chem; 2012 Sep 01; 12(21):2303-13. PubMed ID: 23279171
    [Abstract] [Full Text] [Related]

  • 29. Altered expression of hippocampal dentate granule neuron genes in a mouse model of human 22q11 deletion syndrome.
    Jurata LW, Gallagher P, Lemire AL, Charles V, Brockman JA, Illingworth EL, Altar CA.
    Schizophr Res; 2006 Dec 01; 88(1-3):251-9. PubMed ID: 17008057
    [Abstract] [Full Text] [Related]

  • 30. Inherited t(9;22) as the cause of DiGeorge syndrome: a case report.
    Shuib S, Abdul Latif Z, Abidin NZ, Akmal SN, Zakaria Z.
    Malays J Pathol; 2009 Dec 01; 31(2):133-6. PubMed ID: 20514857
    [Abstract] [Full Text] [Related]

  • 31. [DiGeorge syndrome. Velocardiofacial syndrome/chromosome 22q11 deletion syndrome].
    Hoffmann MH, Vadstrup S.
    Ugeskr Laeger; 2000 May 08; 162(19):2736-9. PubMed ID: 10827540
    [Abstract] [Full Text] [Related]

  • 32. Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
    Gilmour DF, Downey LM, Sheridan E, Long V, Bradbury J, Inglehearn CF, Toomes C.
    Ophthalmology; 2009 Aug 08; 116(8):1522-4. PubMed ID: 19501404
    [Abstract] [Full Text] [Related]

  • 33. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
    [Abstract] [Full Text] [Related]

  • 34. The 22q11.2 deletion syndrome: more answers but more questions.
    Fernhoff PM.
    J Pediatr; 2000 Aug 10; 137(2):145-7. PubMed ID: 10931401
    [No Abstract] [Full Text] [Related]

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  • 36. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome.
    Yamagishi H, Srivastava D.
    Trends Mol Med; 2003 Sep 10; 9(9):383-9. PubMed ID: 13129704
    [Abstract] [Full Text] [Related]

  • 37. Recognizing a common genetic syndrome: 22q11.2 deletion syndrome.
    Kapadia RK, Bassett AS.
    CMAJ; 2008 Feb 12; 178(4):391-3. PubMed ID: 18268261
    [No Abstract] [Full Text] [Related]

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  • 40. 22q11.2 deletion syndrome: introduction.
    Lajiness-O'Neill R.
    Child Neuropsychol; 2005 Feb 12; 11(1):1-3. PubMed ID: 15823979
    [No Abstract] [Full Text] [Related]

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