(Q51927994)

English

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

scientific article published on 14 July 2005

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

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

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

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Rubinstein-Taybi syndrome

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author name string

Oliver Bartsch

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

Stefanie Schmidt

2

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

Marion Richter

3

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

Susanne Morlot

4

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

Eva Seemanová

5

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

Glenis Wiebe

6

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

Sasan Rasi

7

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

publication date

14 July 2005

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

117

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

5

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

485-493

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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CBP/p300 in cell growth, transformation, and development

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Long-range control of gene expression: emerging mechanisms and disruption in disease

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Rubinstein-Taybi syndrome in The Netherlands

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Keloids and neoplasms in the Rubinstein-Taybi syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Dominant inheritance of a syndrome similar to Rubinstein-Taybi

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Human diseases with underlying defects in chromatin structure and modification.

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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A new type of mutation causes a splicing defect in ATM.

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Rubinstein‐Taybi syndrome medical guidelines

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Tumors in Rubinstein-Taybi syndrome

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https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16021471

12 December 2020

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Identifiers

10.1007/S00439-005-1331-Y

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/16021471

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