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2. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit. Berti L, Mittler G, Przemeck GK, Stelzer G, Günzler B, Amati F, Conti E, Dallapiccola B, Hrabé de Angelis M, Novelli G, Meisterernst M. Genomics; 2001 Jun 15; 74(3):320-32. PubMed ID: 11414760 [Abstract] [Full Text] [Related]
4. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML. Genomics; 1997 Aug 01; 43(3):267-77. PubMed ID: 9268629 [Abstract] [Full Text] [Related]
6. Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Goldmuntz E, Wang Z, Roe BA, Budarf ML. Genomics; 1996 Apr 15; 33(2):271-6. PubMed ID: 8660975 [Abstract] [Full Text] [Related]
7. The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Wilming LG, Snoeren CA, van Rijswijk A, Grosveld F, Meijers C. Hum Mol Genet; 1997 Feb 15; 6(2):247-58. PubMed ID: 9063745 [Abstract] [Full Text] [Related]
8. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G. Gene; 2001 Sep 05; 275(1):39-46. PubMed ID: 11574150 [Abstract] [Full Text] [Related]
12. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML. Hum Mol Genet; 1997 Feb 05; 6(2):267-76. PubMed ID: 9063747 [Abstract] [Full Text] [Related]
13. 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 05; 30(10):807-12. PubMed ID: 7901419 [Abstract] [Full Text] [Related]
14. Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. Saint-Jore B, Puech A, Heyer J, Lin Q, Raine C, Kucherlapati R, Skoultchi AI. Hum Mol Genet; 1998 Nov 05; 7(12):1841-9. PubMed ID: 9811927 [Abstract] [Full Text] [Related]
15. Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R. Genomics; 1997 Jun 01; 42(2):245-51. PubMed ID: 9192844 [Abstract] [Full Text] [Related]
16. Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Aubry M, Demczuk S, Desmaze C, Aikem M, Aurias A, Julien JP, Rouleau GA. Hum Mol Genet; 1993 Oct 01; 2(10):1583-7. PubMed ID: 8268910 [Abstract] [Full Text] [Related]
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 01; 96(6):419-23. PubMed ID: 9216164 [Abstract] [Full Text] [Related]
18. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML. Hum Mol Genet; 1996 Jun 01; 5(6):789-800. PubMed ID: 8776594 [Abstract] [Full Text] [Related]