(Q42605080)

3 November 2017

Rubinstein-Taybi syndrome (CREBBP, EP300). (English)

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Rubinstein-Taybi syndrome

3 November 2017

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Didier Lacombe

3

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Raoul Hennekam

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5

object named as

Raoul C M Hennekam

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3 November 2017

Martine van Belzen

1

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3 November 2017

Oliver Bartsch

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2

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3 November 2017

Dorien J M Peters

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4

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3 November 2017

28 July 2010

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European Journal of Human Genetics

3 November 2017

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3 November 2017

19

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3 November 2017

1

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3 November 2017

preceeding 118-20

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.124

3 November 2017

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cites work

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

Etiology and recurrence risk in Rubinstein-Taybi syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039496

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20664634

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.124

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Dimensions Publication ID

3 November 2017

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3 November 2017

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