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Journal Abstract Search

529 related items for PubMed ID: 7747757

  • 1. 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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  • 2. 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 01; 3 Suppl 1():27-8. PubMed ID: 8130147
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  • 4. 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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  • 6. 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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  • 8. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
    Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA.
    Am J Med Genet; 1996 Oct 16; 65(2):101-3. PubMed ID: 8911598
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  • 11. The search for hemizygosity at 22qll in patients with isolated cleft palate.
    Mingarelli R, Digilio MC, Mari A, Amati F, Standoli L, Giannotti A, Novelli G, Dallapiccola B.
    J Craniofac Genet Dev Biol; 1996 Oct 16; 16(2):118-21. PubMed ID: 8773902
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  • 12. 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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  • 13. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
    Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A.
    Am J Med Genet; 1995 Mar 27; 56(2):191-7. PubMed ID: 7625444
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  • 14. DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
    Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo TP, Goldmuntz E, Emanuel BS, Driscoll DA.
    Am J Med Genet; 1993 Nov 15; 47(7):1078-82. PubMed ID: 8291527
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  • 16. [Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
    Pânzaru M, Rusu C, Voloşciuc M, Braha E, Butnariu L, Ivanov I, Grămescu M, Popescu R, Caba L, Sireteanu A, Macovei M, Covic M, Gorduza EV.
    Rev Med Chir Soc Med Nat Iasi; 2011 Nov 15; 115(3):756-61. PubMed ID: 22046783
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  • 17. 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 15; 96(6):419-23. PubMed ID: 9216164
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  • 18. 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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