Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients (Q33260914)

24 July 2017

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients (English)

1 reference

Rubinstein-Taybi syndrome

24 July 2017

0 references

0 references

0 references

1

Angela Bentivegna

1 reference

24 July 2017

Stefano Manzini

6

0 references

Cristina Gervasini

object named as

Cristina Gervasini

3

0 references

Donatella Milani

object named as

Donatella Milani

2

0 references

author name string

Paola Castronovo

4

1 reference

24 July 2017

Federica Mottadelli

5

1 reference

24 July 2017

Patrizia Colapietro

7

1 reference

24 July 2017

Lucio Giordano

8

1 reference

24 July 2017

Francesca Atzeri

9

1 reference

24 July 2017

Maria T Divizia

10

1 reference

24 July 2017

Maria L Giovannucci Uzielli

11

1 reference

24 July 2017

Giovanni Neri

12

1 reference

24 July 2017

Maria F Bedeschi

13

1 reference

24 July 2017

Francesca Faravelli

14

1 reference

24 July 2017

Angelo Selicorni

15

1 reference

24 July 2017

Lidia Larizza

16

1 reference

24 July 2017

19 October 2006

1 reference

24 July 2017

1 reference

24 July 2017

7

1 reference

24 July 2017

77

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-7-77

24 July 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

14 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

14 July 2018

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

CBP/p300 in cell growth, transformation, and development

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

The CBP co-activator is a histone acetyltransferase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

Protein import into the nucleus: an integrated view

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

A CBP integrator complex mediates transcriptional activation and AP-1 inhibition by nuclear receptors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

Tumors in Rubinstein-Taybi syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

Keloids and neoplasms in the Rubinstein-Taybi syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

A knowledge base for predicting protein localization sites in eukaryotic cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1626071

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

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

CBP truncating mutations in ovarian cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

Adenoviral ElA-associated protein p300 as a functional homologue of the transcriptional co-activator CBP

21 January 2018

2 references

https://api.crossref.org/works/10.1186%2F1471-2350-7-77

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/17052327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-7-77

1 reference

Dimensions Publication ID

24 July 2017

0 references

1 reference

24 July 2017

1 reference