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Journal Abstract Search


317 related items for PubMed ID: 9714433

  • 1. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch.
    Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA.
    Am J Med Genet; 1998 Jul 24; 78(4):322-31. PubMed ID: 9714433
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  • 2. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
    Ravnan JB, Chen E, Golabi M, Lebo RV.
    Am J Med Genet; 1996 Dec 18; 66(3):250-6. PubMed ID: 8985481
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  • 3. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
    Bonnet D, Cormier-Daire V, Kachaner J, Szezepanski I, Souillard P, Sidi D, Munnich A, Lyonnet S.
    Am J Med Genet; 1997 Jan 20; 68(2):182-4. PubMed ID: 9028455
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  • 4. Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.
    Momma K, Kondo C, Matsuoka R.
    J Am Coll Cardiol; 1996 Jan 20; 27(1):198-202. PubMed ID: 8522695
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  • 5. 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 Jan 20; 18(5):603-8. PubMed ID: 15523900
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  • 6. A genetic etiology for interruption of the aortic arch type B.
    Lewin MB, Lindsay EA, Jurecic V, Goytia V, Towbin JA, Baldini A.
    Am J Cardiol; 1997 Aug 15; 80(4):493-7. PubMed ID: 9285664
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  • 8. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
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  • 9. Interrupted aortic arch: an epidemiologic study.
    Loffredo CA, Ferencz C, Wilson PD, Lurie IW.
    Teratology; 2000 May 10; 61(5):368-75. PubMed ID: 10777832
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  • 10. Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).
    Soares G, Alvares S, Rocha C, Teixeira MF, Mota MC, Reis MI, Feijó MJ, Lima MR, Pinto MR.
    Rev Port Cardiol; 2005 Mar 10; 24(3):349-71. PubMed ID: 15929620
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  • 11. [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 10; 129(5):515-21. PubMed ID: 11464533
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  • 13. Chromosome 22q11 deletions in patients with selected outflow tract malformations.
    Frohn-Mulder IM, Wesby Swaay E, Bouwhuis C, Van Hemel JO, Gerritsma E, Niermeyer MF, Hess J.
    Genet Couns; 1999 May 10; 10(1):35-41. PubMed ID: 10191427
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  • 14. Deletion of 22q11 in two brothers with different phenotype.
    Kasprzak L, Der Kaloustian VM, Elliott AM, Shevell M, Lejtenyi C, Eydoux P.
    Am J Med Genet; 1998 Jan 23; 75(3):288-91. PubMed ID: 9475599
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  • 16. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.
    Webber SA, Hatchwell E, Barber JC, Daubeney PE, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR.
    J Pediatr; 1996 Jul 23; 129(1):26-32. PubMed ID: 8757559
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  • 20. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
    Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.
    Am J Med Genet; 1994 Oct 01; 52(4):445-9. PubMed ID: 7747757
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