(Q59698004)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17473832%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17473832%20AND%20SRC:MED&resulttype=core&format=json

Rubinstein-Taybi syndrome

30 December 2019

main subject

1 reference

9

1 reference

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30 December 2019

Didier Lacombe

11

1 reference

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30 December 2019

author name string

Marianne Stef

1

1 reference

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30 December 2019

Delphine Simon

2

1 reference

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30 December 2019

Béatrice Mardirossian

3

1 reference

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30 December 2019

Marie-Ange Delrue

4

1 reference

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30 December 2019

Ingrid Burgelin

5

1 reference

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30 December 2019

Christophe Hubert

6

1 reference

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30 December 2019

Michèle Marche

7

1 reference

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30 December 2019

Françoise Bonnet

8

1 reference

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30 December 2019

Michel Longy

10

1 reference

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30 December 2019

Isabelle Coupry

12

1 reference

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30 December 2019

Benoît Arveiler

13

1 reference

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30 December 2019

publication date

2 May 2007

1 reference

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European Journal of Human Genetics

30 December 2019

published in

1 reference

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30 December 2019

volume

15

1 reference

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30 December 2019

issue

8

1 reference

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30 December 2019

page(s)

843-847

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201847

30 December 2019

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201847

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201847

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17473832%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference