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Journal Abstract Search

124 related items for PubMed ID: 15337468

  • 21. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
    Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D.
    Eur J Hum Genet; 2007 Jun; 15(6):658-63. PubMed ID: 17377518
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  • 22. Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.
    Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D.
    Cardiol Young; 2009 Apr; 19(2):179-84. PubMed ID: 19224675
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  • 23. Dissecting contiguous gene defects: TBX1.
    Baldini A.
    Curr Opin Genet Dev; 2005 Jun; 15(3):279-84. PubMed ID: 15917203
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  • 24. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.
    Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L.
    Eur J Med Genet; 2012 Dec; 55(12):732-6. PubMed ID: 23059467
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  • 29. [Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome].
    Qin YF, Yang JB, Xie CH, Shao J, Zhao ZY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):284-7. PubMed ID: 17557238
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  • 30. Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
    Hasten E, McDonald-McGinn DM, Crowley TB, Zackai E, Emanuel BS, Morrow BE, Racedo SE.
    Hum Mol Genet; 2018 Jun 01; 27(11):1847-1857. PubMed ID: 29509905
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  • 31. [Study on the relationship between 22q11 microdeletion and congenital heart disease].
    Du YR, Yang HJ, Tan Z, Huang Y, Li SL, Tian JW, Zhang GY, Li P, Fu SB.
    Yi Chuan; 2005 Nov 01; 27(6):873-6. PubMed ID: 16378931
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  • 35. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.
    Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M.
    J Med Genet; 2005 Nov 01; 42(11):871-6. PubMed ID: 15831592
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  • 36. Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases.
    Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE.
    Int J Cardiol; 2008 Jun 06; 126(3):374-8. PubMed ID: 17604138
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  • 37. Dysplastic changes in the peripheral blood of children with microdeletion 22q11.2.
    Ozbek N, Derbent M, Olcay L, Yilmaz Z, Tokel K.
    Am J Hematol; 2004 Oct 06; 77(2):126-31. PubMed ID: 15389824
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