(Q28295041)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7630403%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7630403%20AND%20SRC:MED&resulttype=core&format=json

Rubinstein-Taybi syndrome

22 October 2019

main subject

0 references

author

Jasper J. Saris

4

1 reference

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22 October 2019

Niels Tommerup

7

1 reference

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22 October 2019

author name string

F Petrij

1

1 reference

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22 October 2019

R H Giles

2

1 reference

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22 October 2019

H G Dauwerse

3

1 reference

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22 October 2019

R C Hennekam

5

1 reference

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22 October 2019

M Masuno

6

1 reference

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22 October 2019

G J van Ommen

8

1 reference

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22 October 2019

R H Goodman

9

1 reference

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22 October 2019

D J Peters

10

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22 October 2019

publication date

1 July 1995

1 reference

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22 October 2019

language of work or name

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7630403%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

376

1 reference

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22 October 2019

issue

6538

1 reference

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22 October 2019

page(s)

348-351

1 reference

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

22 October 2019

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Phosphorylated CREB binds specifically to the nuclear protein CBP

1 reference

7 January 2021

Cyclic AMP-responsive DNA-binding protein: structure based on a cloned placental cDNA

1 reference

7 January 2021

A cluster of phosphorylation sites on the cyclic AMP-regulated nuclear factor CREB predicted by its sequence

1 reference

7 January 2021

Nuclear protein CBP is a coactivator for the transcription factor CREB

1 reference

7 January 2021

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

1 reference

7 January 2021

A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA

1 reference

7 January 2021

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

1 reference

7 January 2021

A family of transcriptional adaptor proteins targeted by the E1A oncoprotein

1 reference

7 January 2021

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

7 January 2021

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

7 January 2021

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

1 reference

7 January 2021

Keloids and neoplasms in the Rubinstein-Taybi syndrome.

1 reference

7 January 2021

Tumors in Rubinstein-Taybi syndrome

1 reference

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

7 January 2021

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

1 reference

7 January 2021

High resolution visual mapping of stretched DNA by fluorescent hybridization

1 reference

7 January 2021

Identifiers

DOI

10.1038/376348A0

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7630403%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 October 2019

1008825069

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017