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485 related items for PubMed ID: 16463032

  • 1. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
    Yakut T, Kilic SS, Cil E, Yapici E, Egeli U.
    Pediatr Surg Int; 2006 Apr; 22(4):380-3. PubMed ID: 16463032
    [Abstract] [Full Text] [Related]

  • 2. 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; 96(6):419-23. PubMed ID: 9216164
    [Abstract] [Full Text] [Related]

  • 3. [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 Jun; 115(3):756-61. PubMed ID: 22046783
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  • 5. Anatomic patterns of conotruncal defects associated with deletion 22q11.
    Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B.
    Genet Med; 2001 Jun; 3(1):45-8. PubMed ID: 11339377
    [Abstract] [Full Text] [Related]

  • 6. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].
    Sun JQ, Wang LS, Qi CH, Ying WJ, Guo XH, Liu DR, Hui XY, Liu F, Cao Y, Luo FH, Wang XC.
    Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):944-7. PubMed ID: 23324155
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  • 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/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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. [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 15; 129(5):515-21. PubMed ID: 11464533
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 13. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.
    Alikaşifoğlu M, Malkoç N, Ceviz N, Ozme S, Uludoğan S, Tunçbilek E.
    Turk J Pediatr; 2000 Dec 18; 42(3):215-8. PubMed ID: 11105620
    [Abstract] [Full Text] [Related]

  • 14. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
    Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS.
    J Med Genet; 1993 Oct 18; 30(10):807-12. PubMed ID: 7901419
    [Abstract] [Full Text] [Related]

  • 15. 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.
    Ramírez-Velazco A, Rivera H, Vásquez-Velázquez AI, Aguayo-Orozco TA, Delgadillo-Pérez S, Domínguez MG.
    Colomb Med (Cali); 2018 Sep 30; 49(3):219-222. PubMed ID: 30410196
    [Abstract] [Full Text] [Related]

  • 16. [Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome].
    Qin YF, Yang JB, Xie CH, Shao J, Zhao ZY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun 30; 24(3):284-7. PubMed ID: 17557238
    [Abstract] [Full Text] [Related]

  • 17. Role of TBX1 in human del22q11.2 syndrome.
    Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R.
    Lancet; 2003 Oct 25; 362(9393):1366-73. PubMed ID: 14585638
    [Abstract] [Full Text] [Related]

  • 18. DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
    Wang JL, Chen SJ, Chung MY, Niu DM, Lin CY, Hwang BT, Lu JH.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997 Oct 25; 38(5):385-9. PubMed ID: 9401184
    [Abstract] [Full Text] [Related]

  • 19. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients.
    Borgmann S, Luhmer I, Arslan-Kirchner M, Kallfelz HC, Schmidtke J.
    Eur J Pediatr; 1999 Dec 25; 158(12):958-63. PubMed ID: 10592069
    [Abstract] [Full Text] [Related]

  • 20. Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
    Bahamat AA, Assidi M, Lary SA, Almughamsi MM, Peer Zada AA, Chaudhary A, Abuzenadah A, Abu-Elmagd M, Al-Qahtani M.
    Cytogenet Genome Res; 2018 Dec 25; 154(1):20-29. PubMed ID: 29455205
    [Abstract] [Full Text] [Related]

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