(Q52539134)

2 May 2018

title

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

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2 May 2018

Rubinstein-Taybi syndrome

main subject

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F Petrij

1

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2 May 2018

J C Dorsman

2

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2 May 2018

H G Dauwerse

3

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2 May 2018

R H Giles

4

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2 May 2018

T Peeters

5

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2 May 2018

R C Hennekam

6

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2 May 2018

M H Breuning

7

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2 May 2018

D J Peters

8

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2 May 2018

publication date

1 May 2000

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2 May 2018

American Journal of Medical Genetics Part A

published in

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2 May 2018

volume

92

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2 May 2018

issue

1

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2 May 2018

page(s)

47-52

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2 May 2018

Recruitment of p300/CBP in p53-dependent signal pathways

cites work

1 reference

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

21 January 2018

1 reference

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Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3

21 January 2018

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Monoclonal antibody NM11 recognizes a C-terminal epitope shared by p300 and CBP.

21 January 2018

1 reference

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Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation

21 January 2018

1 reference

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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

21 January 2018

1 reference

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CREB-binding protein/p300 are transcriptional coactivators of p65

21 January 2018

1 reference

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Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Conjunction dysfunction: CBP/p300 in human disease.

21 January 2018

1 reference

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p300/MDM2 complexes participate in MDM2-mediated p53 degradation

21 January 2018

1 reference

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Binding and modulation of p53 by p300/CBP coactivators

21 January 2018

1 reference

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The basic helix-loop-helix protein BETA2 interacts with p300 to coordinate differentiation of secretin-expressing enteroendocrine cells

21 January 2018

1 reference

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RNA helicase A mediates association of CBP with RNA polymerase II

21 January 2018

1 reference

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Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

21 January 2018

1 reference

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MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3).

21 January 2018

1 reference

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

21 January 2018

1 reference

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A role for CREB binding protein and p300 transcriptional coactivators in Ets-1 transactivation functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C47%3A%3AAID-AJMG8%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C47%3A%3AAID-AJMG8%3E3.0.CO%3B2-H

Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000501%2992%3A1%3C47%3A%3AAID-AJMG8%3E3.0.CO%3B2-H

10.1002/(SICI)1096-8628(20000501)92:1<47::AID-AJMG8>3.0.CO;2-H

21 January 2018

Identifiers

DOI

1 reference

2 May 2018

PubMed ID

10797422

1 reference

2 May 2018