(Q33891976)

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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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Europe PubMed Central

PubMed publication ID

29 July 2017

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

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Europe PubMed Central

PubMed publication ID

29 July 2017

Rubinstein-Taybi syndrome

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author name string

F Petrij

1

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Europe PubMed Central

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29 July 2017

H G Dauwerse

2

1 reference

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29 July 2017

R I Blough

3

1 reference

Europe PubMed Central

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29 July 2017

R H Giles

4

1 reference

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29 July 2017

J J van der Smagt

5

1 reference

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29 July 2017

R Wallerstein

6

1 reference

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29 July 2017

P D Maaswinkel-Mooy

7

1 reference

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29 July 2017

C D van Karnebeek

8

1 reference

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29 July 2017

G J van Ommen

9

1 reference

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29 July 2017

A van Haeringen

10

1 reference

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29 July 2017

J H Rubinstein

11

1 reference

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29 July 2017

H M Saal

12

1 reference

Europe PubMed Central

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29 July 2017

R C Hennekam

13

1 reference

Europe PubMed Central

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29 July 2017

D J Peters

14

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29 July 2017

M H Breuning

15

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29 July 2017

language of work or name

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publication date

1 March 2000

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Europe PubMed Central

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29 July 2017

Journal of Medical Genetics

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29 July 2017

37

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29 July 2017

3

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Europe PubMed Central

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29 July 2017

168-176

1 reference

Europe PubMed Central

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29 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Role of CBP/P300 in nuclear receptor signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Apparent dominant transmission of the Rubinstein-Taybi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Phosphorylated CREB binds specifically to the nuclear protein CBP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Rubinstein-Taybi syndrome in a mother and son.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Rubinstein-Taybi syndrome in The Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

28 July 2018

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Update CBP/p300 transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Conjunction dysfunction: CBP/p300 in human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Drosophila CBP is required for dorsal-dependent twist gene expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734540

29 October 2018

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

1 reference

https://pubmed.ncbi.nlm.nih.gov/10699051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.37.3.168

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

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