Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. (Q34545741)

2 August 2017

title

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

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Rubinstein-Taybi syndrome

2 August 2017

main subject

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Didier Lacombe

5

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author name string

Isabelle Coupry

1

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2 August 2017

Laurence Monnet

2

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2 August 2017

Azza Abd El Moneim Attia

3

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2 August 2017

Laurence Taine

4

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2 August 2017

Benoît Arveiler

6

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2 August 2017

publication date

1 March 2004

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2 August 2017

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2 August 2017

volume

23

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2 August 2017

issue

3

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2 August 2017

page(s)

278-284

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

2 August 2017

cites work

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PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

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

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Phosphorylated CREB binds specifically to the nuclear protein CBP

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7 January 2021

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

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7 January 2021

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

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7 January 2021

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

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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.

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7 January 2021

Conjunction dysfunction: CBP/p300 in human disease.

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7 January 2021

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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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7 January 2021

Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

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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).

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7 January 2021

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

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Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

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Identifiers

DOI

10.1002/HUMU.20001

1 reference

2 August 2017

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