Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

被引:87
作者
Coupry, I
Roudaut, C
Stef, M
Delrue, MA
Marche, M
Burgelin, I
Taine, L
Cruaud, C
Lacombe, D
Arveiler, B
机构
[1] Univ Bordeaux 2, Lab Pathol Mol & Therapie Gen, F-33076 Bordeaux, France
[2] CHU Bordeaux, Serv Genet Med, Bordeaux, France
[3] Genoscope, Evry, France
关键词
D O I
10.1136/jmg.39.6.415
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:415 / 421
页数:7
相关论文
共 17 条
[1]   FISH studies in 45 patients with Rubinstein-Taybi syndrome:: deletions associated with polysplenia, hypoplastic left heart and death in infancy [J].
Bartsch, O ;
Wagner, A ;
Hinkel, GK ;
Krebs, P ;
Stumm, M ;
Schmalenberger, B ;
Böhm, S ;
Balci, S ;
Majewski, F .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (07) :748-756
[2]  
Blough RI, 2000, AM J MED GENET, V90, P29, DOI 10.1002/(SICI)1096-8628(20000103)90:1<29::AID-AJMG6>3.0.CO
[3]  
2-Z
[4]   PHOSPHORYLATED CREB BINDS SPECIFICALLY TO THE NUCLEAR-PROTEIN CBP [J].
CHRIVIA, JC ;
KWOK, RPS ;
LAMB, N ;
HAGIWARA, M ;
MONTMINY, MR ;
GOODMAN, RH .
NATURE, 1993, 365 (6449) :855-859
[5]   A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].
Dib, C ;
Faure, S ;
Fizames, C ;
Samson, D ;
Drouot, N ;
Vignal, A ;
Millasseau, P ;
Marc, S ;
Hazan, J ;
Seboun, E ;
Lathrop, M ;
Gyapay, G ;
Morissette, J ;
Weissenbach, J .
NATURE, 1996, 380 (6570) :152-154
[6]   Conjunction dysfunction: CBP/p300 in human disease [J].
Giles, RH ;
Peters, DJM ;
Breuning, MH .
TRENDS IN GENETICS, 1998, 14 (05) :178-183
[7]   Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3 [J].
Giles, RH ;
Petrij, F ;
Dauwerse, HG ;
denHollander, AI ;
Lushnikova, T ;
vanOmmen, GJB ;
Goodman, RH ;
Deaven, LL ;
Doggett, NA ;
Peters, DJM ;
Breuning, MH .
GENOMICS, 1997, 42 (01) :96-114
[8]   RUBINSTEIN-TAYBI SYNDROME WITH DENOVO RECIPROCAL TRANSLOCATION T(2-16)(P13.3-P13.3) [J].
IMAIZUMI, K ;
KUROKI, Y .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04) :636-639
[9]   CONFIRMATION OF ASSIGNMENT OF A LOCUS FOR RUBINSTEIN-TAYBI SYNDROME GENE TO 16P13.3 [J].
LACOMBE, O ;
SAURA, R ;
TAINE, L ;
BATTIN, J .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (01) :126-128
[10]   Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome [J].
Liu, WG ;
Qian, CP ;
Francke, U .
NATURE GENETICS, 1997, 16 (04) :328-329