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Journal Abstract Search

210 related items for PubMed ID: 8481040

  • 1. Noonan's and DiGeorge syndromes with monosomy 22q11.
    Wilson DI, Britton SB, McKeown C, Kelly D, Cross IE, Strobel S, Scambler PJ.
    Arch Dis Child; 1993 Feb; 68(2):187-9. PubMed ID: 8481040
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  • 7. Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.
    Franke UC, Scambler PJ, Löffler C, Löns P, Hanefeld F, Zoll B, Hansmann I.
    Clin Genet; 1994 Aug; 46(2):187-92. PubMed ID: 7820929
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  • 8. A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
    Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J.
    Am J Hum Genet; 1992 Nov; 51(5):957-63. PubMed ID: 1415264
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  • 10. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.
    Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J.
    Br Heart J; 1991 Oct; 66(4):308-12. PubMed ID: 1747284
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  • 11. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
    Hou JW, Wang JK, Tsai WY, Chou CC, Wang TR.
    J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164
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  • 12. [Monosomy 22pter-22q11.2 with monosomy 10q26.2-10qter without Di George syndrome].
    Arslanian A, Veneziano G, Grasso M, Brugo A, Bertamino F.
    Pathologica; 1985 Jun; 77(1052):767-70. PubMed ID: 3842998
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  • 14. DiGeorge syndrome in a child with partial monosomy of chromosome 22.
    Annerén G, Gustafsson J, Sunnegårdh J.
    Ups J Med Sci; 1989 Jun; 94(1):47-53. PubMed ID: 2711536
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  • 15. Unusual dysmorphic features in five patients with Noonan's syndrome: a brief review.
    Tramboo NA, Iqbal K, Dar MA, Malik RA, Naikoo BA, Andrabi MA.
    J Paediatr Child Health; 2002 Oct; 38(5):521-5. PubMed ID: 12354273
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  • 16. DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
    Wang JL, Chen SJ, Chung MY, Niu DM, Lin CY, Hwang BT, Lu JH.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997 Oct; 38(5):385-9. PubMed ID: 9401184
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  • 17. Classical Noonan syndrome is not associated with deletions of 22q11.
    Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA.
    Am J Med Genet; 1995 Mar 13; 56(1):94-6. PubMed ID: 7747795
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  • 19. Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome.
    Schwanitz G, Zerres K.
    Ann Genet; 1987 Mar 13; 30(2):80-4. PubMed ID: 3314667
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