Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

Human mutation - 1 Mar 2004

Coupry Isabelle, Monnet Laurence, Attia Azza Abd El Moneim, Taine Laurence, Lacombe Didier, Arveiler Benoît

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome characterized by facial abnormalities, broad thumbs, broad big toes, and growth and mental retardation as the main clinical features. RTS was shown to be associated with disruption of the CREB-binding protein gene CBP (CREBBP), either by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computer Systems
Share to CREB-Binding Protein
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Microsatellite Repeats

Share to Nuclear Proteins

Share to Rubinstein-Taybi Syndrome

Share to Trans-Activators

Source

Identifiers

PMID: 14974086
DOI: 10.1002/humu.20001

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14974086-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.PMID 14974086Read ↗

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)Semantic proximity Read ↗

Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.Semantic proximity Read ↗

Molecular analysis of the <i>CBP</i> gene in 60 patients with Rubinstein-Taybi syndromeSemantic proximity Read ↗

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Semantic proximity Read ↗

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.Semantic proximity Read ↗

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patientsSemantic proximity Read ↗

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.Semantic proximity Read ↗

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.Semantic proximity Read ↗

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.