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Journal Abstract Search

450 related items for PubMed ID: 14708107

  • 1. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
    Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA.
    Am J Med Genet A; 2004 Jan 30; 124A(3):313-7. PubMed ID: 14708107
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  • 2. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.
    Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P.
    Am J Med Genet A; 2003 Feb 15; 117A(1):1-5. PubMed ID: 12548732
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  • 3. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
    Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS.
    J Med Genet; 1993 Oct 15; 30(10):813-7. PubMed ID: 8230155
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  • 4. 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 15; 38(8):533-6. PubMed ID: 11494964
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  • 5. 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 15; 82(1):214-21. PubMed ID: 18179902
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  • 6. 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. 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
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  • 14. 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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  • 15. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
    Zhu H, Wang A, Zhang H, Ji C, Zhan X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 20; 31(5):623-7. PubMed ID: 25297596
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  • 16. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.
    Am J Med Genet A; 2005 Aug 15; 137(1):47-51. PubMed ID: 16007629
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