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Journal Abstract Search

212 related items for PubMed ID: 19645056

  • 1. Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.
    Heike CL, Starr JR, Rieder MJ, Cunningham ML, Edwards KL, Stanaway IB, Crawford DC.
    Birth Defects Res A Clin Mol Teratol; 2010 Jan; 88(1):54-63. PubMed ID: 19645056
    [Abstract] [Full Text] [Related]

  • 2. Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
    Mastromoro G, Calcagni G, Versacci P, Putotto C, Chinali M, Lambiase C, Unolt M, Pelliccione E, Anaclerio S, Caprio C, Cioffi S, Bilio M, Baban A, Drago F, Digilio MC, Marino B, Baldini A.
    PLoS One; 2019 Jan; 14(4):e0211170. PubMed ID: 30933971
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 21; 32(11):1278-89. PubMed ID: 21796729
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
    Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y.
    PLoS One; 2014 Jun 01; 9(3):e91598. PubMed ID: 24637876
    [Abstract] [Full Text] [Related]

  • 7. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.
    Prasad SE, Howley S, Murphy KC.
    Dev Disabil Res Rev; 2008 Jun 01; 14(1):26-34. PubMed ID: 18636634
    [Abstract] [Full Text] [Related]

  • 8. In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.
    Almakhari M, Chen Y, Kong AS, Moradigaravand D, Lai KS, Lim SE, Loh JY, Maran S.
    PLoS One; 2024 Jun 01; 19(6):e0298092. PubMed ID: 38905172
    [Abstract] [Full Text] [Related]

  • 9. Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.
    Gao S, Li X, Amendt BA.
    Curr Allergy Asthma Rep; 2013 Dec 01; 13(6):613-21. PubMed ID: 23996541
    [Abstract] [Full Text] [Related]

  • 10. 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 Dec 01; 52(5):321-7. PubMed ID: 19467348
    [Abstract] [Full Text] [Related]

  • 11. [Advance of research on 22q11.2 deletion syndrome].
    Zhou H, Weng X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug 10; 41(8):994-1000. PubMed ID: 39097286
    [Abstract] [Full Text] [Related]

  • 12. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
    Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA.
    Heart; 2010 Oct 10; 96(20):1651-5. PubMed ID: 20937753
    [Abstract] [Full Text] [Related]

  • 13. An association study between the genetic polymorphisms within TBX1 and schizophrenia in the Chinese population.
    Ma G, Shi Y, Tang W, He Z, Huang K, Li Z, He G, Feng G, Li H, He L.
    Neurosci Lett; 2007 Oct 02; 425(3):146-50. PubMed ID: 17850965
    [Abstract] [Full Text] [Related]

  • 14. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
    Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L, International 22q11.2 Brain and Behavior ConsortiumSee Table S1., Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE.
    Am J Hum Genet; 2020 Jan 02; 106(1):26-40. PubMed ID: 31870554
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  • 16. Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
    Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW.
    Am J Med Genet A; 2012 Oct 02; 158A(10):2412-20. PubMed ID: 22893440
    [Abstract] [Full Text] [Related]

  • 17. A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.
    Widdershoven JC, Bowser M, Sheridan MB, McDonald-McGinn DM, Zackai EH, Solot CB, Kirschner RE, Beemer FA, Morrow BE, Devoto M, Emanuel BS.
    Int J Pediatr Otorhinolaryngol; 2013 Jan 02; 77(1):123-7. PubMed ID: 23121717
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  • 19. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
    Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, 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 T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE, International Chromosome 22q11.2 Consortium.
    Am J Med Genet A; 2012 Nov 02; 158A(11):2781-7. PubMed ID: 23034814
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