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140 related items for PubMed ID: 39097286

  • 1. [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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  • 2. [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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  • 3. 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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  • 7. 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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  • 8. Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.
    Shetty M, Srikanth A, Kadandale J, Hegde S.
    Cytogenet Genome Res; 2016 Jun 01; 148(4):249-55. PubMed ID: 27300488
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  • 9. 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. 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 25; 88(1):54-63. PubMed ID: 19645056
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  • 11. 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 25; 158A(10):2412-20. PubMed ID: 22893440
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  • 12. Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
    Lin I, Afshar Y, Goldstein J, Grossman J, Grody WW, Quintero-Rivera F.
    Am J Med Genet A; 2021 Oct 25; 185(10):3042-3047. PubMed ID: 34196458
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  • 13. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
    Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW.
    Hum Mol Genet; 2008 Dec 15; 17(24):4045-53. PubMed ID: 18806272
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  • 14. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
    Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM.
    Am J Med Genet A; 2017 Jan 15; 173(1):135-142. PubMed ID: 27682988
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  • 18. Cancer in 22q11.2 deletion syndrome: A case report and literature review.
    Liu B, Lu Y, Wang Q, Dai Y, Liu L.
    Eur J Med Genet; 2024 Aug 15; 70():104959. PubMed ID: 38969060
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  • 19. 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 15; 32(11):1278-89. PubMed ID: 21796729
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  • 20. 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 Nov 15; 9(3):e91598. PubMed ID: 24637876
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