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Journal Abstract Search

191 related items for PubMed ID: 12700609

  • 21.
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  • 23. Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
    Xu YJ, Chen S, Zhang J, Fang SH, Guo QQ, Wang J, Fu QH, Li F, Xu R, Sun K.
    BMC Med Genet; 2014 Jul 06; 15():78. PubMed ID: 24998776
    [Abstract] [Full Text] [Related]

  • 24. 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 Jul 06; 52(5):321-7. PubMed ID: 19467348
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  • 25. [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases].
    Han XM, Lou Y, Zhu XY, Hu XF, Pang WY, Sun ZJ, Zhang H, Zhang DQ, Sun YX.
    Zhonghua Yi Xue Za Zhi; 2006 Jun 13; 86(22):1553-7. PubMed ID: 16854283
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  • 26. [Frequency of 22q11 deletions in children with isolated conotruncal defects].
    Shen L, Xu YJ, Zhao PJ, Sun K.
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Jan 13; 11(1):25-8. PubMed ID: 19149917
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  • 28. 22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.
    Restivo A, Sarkozy A, Digilio MC, Dallapiccola B, Marino B.
    J Cardiovasc Med (Hagerstown); 2006 Feb 13; 7(2):77-85. PubMed ID: 16645366
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  • 29. The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.
    Kelly RG, Jerome-Majewska LA, Papaioannou VE.
    Hum Mol Genet; 2004 Nov 15; 13(22):2829-40. PubMed ID: 15385444
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  • 30. Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
    Aggarwal VS, Liao J, Bondarev A, Schimmang T, Lewandoski M, Locker J, Shanske A, Campione M, Morrow BE.
    Hum Mol Genet; 2006 Nov 01; 15(21):3219-28. PubMed ID: 17000704
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  • 31.
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  • 32. 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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  • 34. DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
    Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo TP, Goldmuntz E, Emanuel BS, Driscoll DA.
    Am J Med Genet; 1993 Nov 15; 47(7):1078-82. PubMed ID: 8291527
    [Abstract] [Full Text] [Related]

  • 35. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
    Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B.
    Hum Genet; 1995 May 15; 95(5):479-82. PubMed ID: 7759065
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  • 36. Association of tetralogy of Fallot with a distinct region of del22q11.2.
    Kessler-Icekson G, Birk E, Weintraub AY, Barhum Y, Kotlyar V, Schlesinger H, Rockah R, Vidne BA, Frisch A.
    Am J Med Genet; 2002 Feb 01; 107(4):294-8. PubMed ID: 11840485
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  • 37. 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 Feb 01; 14(1):35-42. PubMed ID: 18636635
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  • 38. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
    Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B, International Chromosome 22q11.2 Consortium.
    Hum Mutat; 2011 Nov 01; 32(11):1278-89. PubMed ID: 21796729
    [Abstract] [Full Text] [Related]

  • 39. 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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  • 40. Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.
    Friedman MA, Miletta N, Roe C, Wang D, Morrow BE, Kates WR, Higgins AM, Shprintzen RJ.
    Int J Pediatr Otorhinolaryngol; 2011 Sep 15; 75(9):1167-72. PubMed ID: 21763005
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