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Journal Abstract Search

405 related items for PubMed ID: 9730608

  • 1. Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
    McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE.
    Cytogenet Cell Genet; 1998; 81(3-4):222-8. PubMed ID: 9730608
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  • 2. 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; 64(3):747-58. PubMed ID: 10053009
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  • 6. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
    Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A.
    Am J Hum Genet; 2008 Jan; 82(1):214-21. PubMed ID: 18179902
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  • 7. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
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  • 12. A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
    Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C.
    Hum Genet; 2006 Aug; 120(1):77-84. PubMed ID: 16708226
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  • 15. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.
    Demczuk S, Aurias A.
    Ann Genet; 1995 Aug; 38(2):59-76. PubMed ID: 7486827
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  • 16. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
    Wulfsberg EA.
    Am J Med Genet; 1996 Aug 23; 64(3):523-4. PubMed ID: 8862634
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  • 17. Interrupted aortic arch type B in A patient with cat eye syndrome.
    Belangero SI, Bellucco FT, Cernach MC, Hacker AM, Emanuel BS, Melaragno MI.
    Arq Bras Cardiol; 2009 May 23; 92(5):e29-31, e56-8. PubMed ID: 19629279
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  • 18. Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
    Nogueira SI, Hacker AM, Bellucco FT, Christofolini DM, Kulikowski LD, Cernach MC, Emanuel BS, Melaragno MI.
    Eur J Med Genet; 2008 May 23; 51(3):226-30. PubMed ID: 18342595
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