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Journal Abstract Search

174 related items for PubMed ID: 38905172

  • 1. 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; 19(6):e0298092. PubMed ID: 38905172
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  • 2. 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
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  • 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
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  • 7. [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
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  • 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 10; 13(6):613-21. PubMed ID: 23996541
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  • 13. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
    Kozlova IuO, Zabnenkova VV, Shilova NV, Min'zhenkova ME, Antonenko VG, Kotlukova NP, Simonova LV, Kazanceva IA, Levchenko EG, Bombardirova TD, Zolotukhina TV, Poliakov AV.
    Genetika; 2014 May 10; 50(5):602-10. PubMed ID: 25715476
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  • 14. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.
    Prasad SE, Howley S, Murphy KC.
    Dev Disabil Res Rev; 2008 May 10; 14(1):26-34. PubMed ID: 18636634
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  • 15. Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome.
    Gothelf D, Law AJ, Frisch A, Chen J, Zarchi O, Michaelovsky E, Ren-Patterson R, Lipska BK, Carmel M, Kolachana B, Weizman A, Weinberger DR.
    Biol Psychiatry; 2014 Mar 01; 75(5):406-13. PubMed ID: 23992923
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  • 16. Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.
    Page M, Ridge L, Gold Diaz D, Tsogbayar T, Scambler PJ, Ivins S.
    PLoS One; 2018 Mar 01; 13(11):e0207251. PubMed ID: 30408103
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  • 17. Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.
    Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M, Carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B.
    Am J Med Genet A; 2018 Oct 01; 176(10):2087-2098. PubMed ID: 29663641
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  • 20. Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.
    Hasten E, Morrow BE.
    PLoS Genet; 2019 Aug 01; 15(8):e1008301. PubMed ID: 31412026
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