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Journal Abstract Search

502 related items for PubMed ID: 11801894

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  • 5. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
    McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH.
    Genet Med; 2001; 3(1):23-9. PubMed ID: 11339373
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  • 6. 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. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
    Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS.
    J Med Genet; 1993 Oct; 30(10):807-12. PubMed ID: 7901419
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  • 8. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
    Kitsiou-Tzeli S, Kolialexi A, Fryssira H, Galla-Voumvouraki A, Salavoura K, Kanariou M, Tsangaris GT, Kanavakis E, Mavrou A.
    In Vivo; 2004 Oct; 18(5):603-8. PubMed ID: 15523900
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  • 9. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.
    Oh AK, Workman LA, Wong GB.
    Cleft Palate Craniofac J; 2007 Jan; 44(1):62-6. PubMed ID: 17214538
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  • 10. A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
    Erickson RP, Díaz de Ståhl T, Bruder CE, Dumanski JP.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3302-8. PubMed ID: 18000907
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  • 11. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
    Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.
    Pathologica; 1999 Jun 15; 91(3):166-72. PubMed ID: 10536461
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  • 13. DiGeorge syndrome: new insights.
    Goldmuntz E.
    Clin Perinatol; 2005 Dec 15; 32(4):963-78, ix-x. PubMed ID: 16325672
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  • 15. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
    Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G.
    Rev Med Chil; 2001 May 15; 129(5):515-21. PubMed ID: 11464533
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  • 18. DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes.
    Crifasi PA, Michels VV, Driscoll DJ, Jalal SM, Dewald GW.
    Mayo Clin Proc; 1995 Dec 15; 70(12):1148-53. PubMed ID: 7490915
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  • 19. The deletions of 22q11--the Portuguese experience.
    Gaspar IM, Lourenço MT, Reis MI, Soares MA, Nogueira G, Ferreira F, Feijóo MJ.
    Genet Couns; 1999 Dec 15; 10(1):51-7. PubMed ID: 10191429
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  • 20. 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 Dec 15; 57(6):306-11. PubMed ID: 24721633
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