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Journal Abstract Search

300 related items for PubMed ID: 9184246

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  • 5. DiGeorge syndrome: clinical variability in a family with submicroscopic deletion at 22q11.2.
    Tsui KM, Ng YY, Lam TS.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997; 38(1):52-6. PubMed ID: 9066191
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  • 7. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome).
    Digilio MC, Giannotti A, Castro M, Colistro F, Ferretti F, Marino B, Dallapiccola B.
    Am J Med Genet A; 2003 Sep 01; 121A(3):286-8. PubMed ID: 12923874
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  • 9. Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome.
    Pierpont JW, Erickson RP, Thompson FH, Yang JM.
    Clin Genet; 1996 Dec 01; 50(6):545-7. PubMed ID: 9147896
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  • 10. The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
    McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH.
    Genet Couns; 1999 Dec 01; 10(1):11-24. PubMed ID: 10191425
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  • 14. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
    Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow BE.
    Am J Hum Genet; 1999 Mar 01; 64(3):747-58. PubMed ID: 10053009
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  • 18. Molecular genetics of 22q11.2 deletion syndrome.
    Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ.
    Am J Med Genet A; 2018 Oct 01; 176(10):2070-2081. PubMed ID: 30380194
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  • 20. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
    Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ.
    Am J Med Genet; 1993 Feb 01; 45(3):308-12. PubMed ID: 8434616
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