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Journal Abstract Search

247 related items for PubMed ID: 21763005

  • 1. Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.
    Friedman MA, Miletta N, Roe C, Wang D, Morrow BE, Kates WR, Higgins AM, Shprintzen RJ.
    Int J Pediatr Otorhinolaryngol; 2011 Sep; 75(9):1167-72. PubMed ID: 21763005
    [Abstract] [Full Text] [Related]

  • 2. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.
    Brøndum-Nielsen K, Christensen K.
    Clin Genet; 1996 Sep; 50(3):116-20. PubMed ID: 8946108
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  • 5. Velo-cardio-facial syndrome: a review of 120 patients.
    Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ.
    Am J Med Genet; 1993 Feb 01; 45(3):313-9. PubMed ID: 8434617
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  • 6. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
    Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC.
    Am J Med Genet; 1992 Sep 15; 44(2):261-8. PubMed ID: 1360769
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  • 7. 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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  • 9. Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.
    Sirotkin H, O'Donnell H, DasGupta R, Halford S, St Jore B, Puech A, Parimoo S, Morrow B, Skoultchi A, Weissman SM, Scambler P, Kucherlapati R.
    Genomics; 1997 Apr 01; 41(1):75-83. PubMed ID: 9126485
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  • 10. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
    Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J.
    Lancet; 1992 May 09; 339(8802):1138-9. PubMed ID: 1349369
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  • 11. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
    Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE, International Chromosome 22q11.2 Consortium.
    Am J Med Genet A; 2012 Nov 09; 158A(11):2781-7. PubMed ID: 23034814
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  • 12. Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
    Vantrappen G, Rommel N, Devriendt K, Cremers CW, Feenstra L, Fryns JP.
    Acta Otorhinolaryngol Belg; 2001 Nov 09; 55(1):43-8. PubMed ID: 11256191
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  • 13. Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome).
    Ysunza A, Pamplona MC, Ramírez E, Canún S, Sierra MC, Silva-Rojas A.
    Int J Pediatr Otorhinolaryngol; 2003 Aug 09; 67(8):911-5. PubMed ID: 12880672
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  • 15. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
    Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R.
    Am J Hum Genet; 1995 Jun 09; 56(6):1391-403. PubMed ID: 7762562
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  • 17. Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.
    Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.
    Eur J Pediatr Surg; 1993 Dec 09; 3 Suppl 1():27-8. PubMed ID: 8130147
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  • 18. Velo-cardio-facial syndrome: 30 Years of study.
    Shprintzen RJ.
    Dev Disabil Res Rev; 2008 Dec 09; 14(1):3-10. PubMed ID: 18636631
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  • 19. No justification of routine screening for 22q11 deletions in patients with overt cleft palate.
    Ruiter EM, Bongers EM, Smeets D, Kuijpers-Jagtman AM, Hamel BC.
    Clin Genet; 2003 Sep 09; 64(3):216-9. PubMed ID: 12919136
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