Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. (Q34576234)

3 August 2017

title

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. (English)

1 reference

Rubinstein-Taybi syndrome

3 August 2017

main subject

1 reference

8

Pawel Stankiewicz

1 reference

3 August 2017

6

Beata A Nowakowska

1 reference

3 August 2017

Anne Chun-Hui Tsai

1

1 reference

3 August 2017

Cherilyn J Dossett

2

1 reference

3 August 2017

Carol S Walton

3

1 reference

3 August 2017

Andrea E Cramer

4

1 reference

3 August 2017

Patti A Eng

5

1 reference

3 August 2017

Amber N Pursley

7

1 reference

3 August 2017

Joanna Wiszniewska

9

1 reference

3 August 2017

Sau Wai Cheung

10

1 reference

3 August 2017

publication date

18 August 2010

1 reference

European Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

19

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

43-49

1 reference

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

3 August 2017

cites work

1 reference

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Complex human chromosomal and genomic rearrangements

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

7 July 2018

1 reference

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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

The array CGH and its clinical applications

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

Rubinstein-Taybi syndrome: clinical and molecular overview

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

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

7 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

7 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2010.121

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.121

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.121

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.121

A genome-wide scan for preeclampsia in the Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.121

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039495

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20717166

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20717166

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20717166

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.121

1 reference

3 August 2017

1 reference

3 August 2017

1 reference