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266 related items for PubMed ID: 16143025

  • 1. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
    Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A.
    Clin Genet; 2005 Oct; 68(4):373-8. PubMed ID: 16143025
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Detailed analysis of 22q11.2 with a high density MLPA probe set.
    Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS.
    Hum Mutat; 2008 Mar 10; 29(3):433-40. PubMed ID: 18033723
    [Abstract] [Full Text] [Related]

  • 4. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2009 Mar 10; 52(5):321-7. PubMed ID: 19467348
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Concurrent microdeletion and duplication of 22q11.2.
    Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B.
    Clin Genet; 2008 Jul 18; 74(1):61-7. PubMed ID: 18445048
    [Abstract] [Full Text] [Related]

  • 7. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
    Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.
    Eur J Med Genet; 2010 Jul 18; 53(2):61-5. PubMed ID: 20045748
    [Abstract] [Full Text] [Related]

  • 8. [Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex ligation dependent probe amplification].
    Yang YH, Hu YL, Zhu XY, Mo XM, Wang DJ, Yao JC, Sheng M, Zhu HY, Li J, Ru T, Wang ZQ.
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Nov 18; 11(11):892-6. PubMed ID: 20113655
    [Abstract] [Full Text] [Related]

  • 9. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
    McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A.
    Am J Med Genet; 1999 Sep 03; 86(1):27-33. PubMed ID: 10440825
    [Abstract] [Full Text] [Related]

  • 10. [Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases].
    Xu ZF, Yi L, Mo XM, Hu Y, Wang DJ, Zhu RF, Jiang YZ, Wu X, Wu Z, Shen L, Zhang Y, Zhong XL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun 03; 23(3):250-5. PubMed ID: 16767657
    [Abstract] [Full Text] [Related]

  • 11. [Evaluation of detection and analysis of chromosome 22q11.2 microdeletion by multiple ligation-dependent probe amplification assay].
    DENG JY, ZHANG ZW, LI JH, ZHU YN, YANG JB, GAO Z, YING LY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr 03; 28(2):190-4. PubMed ID: 21462133
    [Abstract] [Full Text] [Related]

  • 12. 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 Apr 03; 18(5):603-8. PubMed ID: 15523900
    [Abstract] [Full Text] [Related]

  • 13. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.
    Oh AK, Workman LA, Wong GB.
    Cleft Palate Craniofac J; 2007 Jan 03; 44(1):62-6. PubMed ID: 17214538
    [Abstract] [Full Text] [Related]

  • 14. Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion).
    Miyamoto RC, Cotton RT, Rope AF, Hopkin RJ, Cohen AP, Shott SR, Rutter MJ.
    Otolaryngol Head Neck Surg; 2004 Apr 03; 130(4):415-7. PubMed ID: 15100636
    [Abstract] [Full Text] [Related]

  • 15. Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.
    Hu Y, Zhu X, Yang Y, Mo X, Sheng M, Yao J, Wang D.
    Cardiol Young; 2009 Apr 03; 19(2):179-84. PubMed ID: 19224675
    [Abstract] [Full Text] [Related]

  • 16. Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis.
    Chen YF, Kou PL, Tsai SJ, Chen KF, Chan HH, Chen CM, Sun HS.
    Genomics; 2006 Feb 03; 87(2):290-7. PubMed ID: 16307865
    [Abstract] [Full Text] [Related]

  • 17. 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 Feb 03; 10(1):35-41. PubMed ID: 10191427
    [Abstract] [Full Text] [Related]

  • 18. [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 03; 31(5):623-7. PubMed ID: 25297596
    [Abstract] [Full Text] [Related]

  • 19. [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 03; 129(5):515-21. PubMed ID: 11464533
    [Abstract] [Full Text] [Related]

  • 20. Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.
    Uddin RK, Zhang Y, Siu VM, Fan YS, O'Reilly RL, Rao J, Singh SM.
    BMC Med Genet; 2006 Mar 02; 7():18. PubMed ID: 16512914
    [Abstract] [Full Text] [Related]

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