Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

被引:9
作者
Novelli, G
Amati, F
Dallapiccola, B
机构
[1] Univ Roma Tor Vergata, Dept Biopathol, I-00133 Rome, Italy
[2] CSS Hosp, San Giovanni Rotondo, Italy
[3] Univ Roma Tor Vergata, I-00173 Rome, Italy
来源
MOLECULAR MEDICINE TODAY | 2000年 / 6卷 / 01期
关键词
D O I
10.1016/S1357-4310(99)01577-4
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:10 / 11
页数:2
相关论文
共 24 条
[1]  
AMATI F, IN PRESS EUR J HUM G
[2]   DIGEORGE SYNDROME AND 22Q11 REARRANGEMENTS [J].
AUGUSSEAU, S ;
JOUK, S ;
JALBERT, P ;
PRIEUR, M .
HUMAN GENETICS, 1986, 74 (02) :206-206
[3]  
Dallapiccola B, 1996, AM J HUM GENET, V59, P7
[4]   The Uba2 and Ufd1 proteins of Saccharomyces cerevisiae interact with poly(A) polymerase and affect the polyadenylation activity of cell extracts [J].
delOlmo, M ;
Mizrahi, N ;
Gross, S ;
Moore, CL .
MOLECULAR AND GENERAL GENETICS, 1997, 255 (02) :209-218
[5]   A common molecular basis for rearrangement disorders on chromosome 22q11 [J].
Edelmann, L ;
Pandita, RK ;
Spiteri, E ;
Funke, B ;
Goldberg, R ;
Palanisamy, N ;
Chaganti, RSK ;
Magenis, E ;
Shprintzen, RJ ;
Morrow, BE .
HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1157-1167
[6]   Ubiquitination gene defect found in DiGeorge syndrome [J].
Fricker, J .
MOLECULAR MEDICINE TODAY, 1999, 5 (06) :233-233
[7]   Mouse autosomal trisomy - two's company, three's a crowd [J].
Hernandez, D ;
Fisher, EMC .
TRENDS IN GENETICS, 1999, 15 (06) :241-247
[8]   Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: A balanced (21;22)(p12;q11) translocation [J].
Holmes, SE ;
Riazi, MA ;
McDermid, HE ;
Sellinger, BT ;
Hua, A ;
Chen, F ;
Wang, ZL ;
Zhang, GZ ;
Roe, B ;
Gonzalez, I ;
McDonaldMcGinn, DM ;
Zackai, E ;
Emanuel, BS ;
Budarf, ML .
HUMAN MOLECULAR GENETICS, 1997, 6 (03) :357-367
[9]  
Kurahashi H, 1996, AM J HUM GENET, V58, P1377
[10]   INTERSTITIAL 22Q11 MICRODELETION EXCLUDING THE ADU BREAKPOINT IN A PATIENT WITH DIGEORGE-SYNDROME [J].
LEVY, A ;
DEMCZUK, S ;
AURIAS, A ;
DEPETRIS, D ;
MATTEI, MG ;
PHILIP, N .
HUMAN MOLECULAR GENETICS, 1995, 4 (12) :2417-2419