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

Journal of Medical Genetics

Volumn 39, Issue 6, 2002, Pages 415-421

  Coupry, Isabelle ^a   Roudaut, C ^a   Stef, M ^a   Delrue, M A ^a   Marche, M ^a   Burgelin, I ^a   Taine, L ^a   Cruaud, C ^a   Lacombe, D ^a   Arveiler, B ^a  

^a L P Mol Ther Gen U V S B 2   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; MESSENGER RNA;

ANALYTIC METHOD; CONTROLLED STUDY; DNA PROBE; EXON; FEMALE; GENE DELETION; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MOLECULAR SIZE; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SOUTHERN BLOTTING;

EID: 18444403425     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.6.415     Document Type: Letter

References (15)

1. Rubinstein-Taybi syndrome
2. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3;p13.3)
3. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation t(7;16) (q34;p13.3)
4. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3
5. Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBP
6. Phosphorylated CREB binds specifically to the nuclear protein CBP
7. Conjunction dysfunction: CBP/p300 in human disease
8. Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion and low number of protein truncating mutations
9. Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3
10. Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome
11. A comprehensive genetic map of the human genome based on 5,264 microsatellites
12. FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
13. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome
14. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome
15. Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences