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Journal Abstract Search

259 related items for PubMed ID: 22185286

  • 1. 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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  • 3. 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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  • 4. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
    Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, Lee ML, Ma GC.
    Ultrasound Obstet Gynecol; 2014 Apr 25; 43(4):396-403. PubMed ID: 23828768
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  • 6. 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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  • 7. A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
    Hong N, Zhang E, Wang Q, Zhang X, Li F, Fu Q, Xu R, Yu Y, Chen S, Xu Y, Sun K.
    J Transl Med; 2018 Sep 21; 16(1):260. PubMed ID: 30241482
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  • 9. Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease.
    Hou HT, Chen HX, Wang XL, Yuan C, Yang Q, Liu ZG, He GW.
    Arch Dis Child; 2020 Apr 21; 105(4):367-374. PubMed ID: 31666243
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  • 11. Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.
    Ganji H, Salehi M, Sedghi M, Abdali H, Nouri N, Sadri L, Hosseinzadeh M, Vakili B, Lotfi M.
    Heart Asia; 2013 Apr 21; 5(1):200-2. PubMed ID: 27326128
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  • 14. 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.
    Ramírez-Velazco A, Rivera H, Vásquez-Velázquez AI, Aguayo-Orozco TA, Delgadillo-Pérez S, Domínguez MG.
    Colomb Med (Cali); 2018 Sep 30; 49(3):219-222. PubMed ID: 30410196
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  • 16. Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.
    Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, Lam ST, Chan KY, Kan AS, Chau AK, Cheung YF, Lau YL, Chung BH.
    Eur J Med Genet; 2014 Sep 30; 57(6):306-11. PubMed ID: 24721633
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  • 18. Anatomic patterns of conotruncal defects associated with deletion 22q11.
    Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B.
    Genet Med; 2001 Sep 30; 3(1):45-8. PubMed ID: 11339377
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  • 20. [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 30; 50(5):602-10. PubMed ID: 25715476
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