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124 related items for PubMed ID: 15337468

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  • 4. 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
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  • 5. Role of TBX1 in human del22q11.2 syndrome.
    Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R.
    Lancet; 2003 Oct 25; 362(9393):1366-73. PubMed ID: 14585638
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  • 10. [Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases].
    Xu ZF, Yi L, Mo XM, Hu Y, Wang DJ, Zhu RF, Jiang YZ, Wu X, Wu Z, Shen L, Zhang Y, Zhong XL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun 25; 23(3):250-5. PubMed ID: 16767657
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  • 12. A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
    Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H.
    Biochem Biophys Res Commun; 2018 May 15; 499(3):563-569. PubMed ID: 29596833
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  • 15. Genetic background of congenital conotruncal heart defects--a study of 45 families.
    Kwiatkowska J, Wierzba J, Aleszewicz-Baranowska J, Ereciński J.
    Kardiol Pol; 2007 Jan 15; 65(1):32-7; discussion 38-9. PubMed ID: 17295158
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  • 16. [Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].
    Eirís-Puñal J, Iglesias-Meleiro JM, Blanco-Barca MO, Fuster-Siebert M, Barros-Angueira F, Ansede A, Castro-Gago M.
    Rev Neurol; 2007 Jan 15; 37(7):601-7. PubMed ID: 14582013
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  • 17. 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
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  • 18. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
    Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K.
    BMC Med Genet; 2011 Dec 21; 12():169. PubMed ID: 22185286
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  • 19. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.
    Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV.
    J Am Coll Cardiol; 2005 Feb 15; 45(4):595-8. PubMed ID: 15708709
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  • 20. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
    Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H.
    Hum Mutat; 2005 Aug 15; 26(2):78-83. PubMed ID: 15957176
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