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Journal Abstract Search

635 related items for PubMed ID: 8862634

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome.
    Bearden CE, Wang PP, Simon TJ.
    Am J Med Genet; 2002 Aug 08; 114(6):689-92. PubMed ID: 12210289
    [No Abstract] [Full Text] [Related]

  • 4. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
    McDonald-McGinn DM, Emanuel BS, Zackai EH.
    Am J Med Genet; 1996 Aug 23; 64(3):525-6. PubMed ID: 8862635
    [No Abstract] [Full Text] [Related]

  • 5. [Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome].
    Hjalgrim H, Hahnemann JM, Timshel S, Brøndum-Nielsen K.
    Ugeskr Laeger; 2000 Jul 31; 162(31):4169-70. PubMed ID: 10962926
    [No Abstract] [Full Text] [Related]

  • 6. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].
    Pusceddu M, Bertone A, Campra D, Pontoriero D, Guala A.
    Minerva Pediatr; 2002 Aug 31; 54(4):343-5. PubMed ID: 12131871
    [No Abstract] [Full Text] [Related]

  • 7. Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome).
    Olney AH, Kolodziej P.
    Ear Nose Throat J; 1998 Jun 31; 77(6):460-1. PubMed ID: 9674319
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.
    Demczuk S, Aurias A.
    Ann Genet; 1995 Apr 10; 38(2):59-76. PubMed ID: 7486827
    [Abstract] [Full Text] [Related]

  • 10. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.
    Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P.
    Nat Genet; 1996 Aug 10; 13(4):458-60. PubMed ID: 8696341
    [Abstract] [Full Text] [Related]

  • 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 10; 91(3):166-72. PubMed ID: 10536461
    [Abstract] [Full Text] [Related]

  • 12. A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
    Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ.
    J Med Genet; 2001 Aug 10; 38(8):533-6. PubMed ID: 11494964
    [No Abstract] [Full Text] [Related]

  • 13. Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
    D'Antoni S, Mattina T, Di Mare P, Federico C, Motta S, Saccone S.
    Gene; 2004 May 26; 333():111-9. PubMed ID: 15177686
    [Abstract] [Full Text] [Related]

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  • 19. The 22q11.2 deletion syndrome.
    Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH.
    Adv Pediatr; 2001 May 26; 48():39-73. PubMed ID: 11480765
    [Abstract] [Full Text] [Related]

  • 20. Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's perspective.
    Cable BB, Mair EA.
    Ear Nose Throat J; 2003 Jan 26; 82(1):56-60. PubMed ID: 12610907
    [Abstract] [Full Text] [Related]

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