(Q53527995)

15 May 2018

title

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. (English)

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15 May 2018

Rubinstein-Taybi syndrome

main subject

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1

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15 May 2018

Angela Bentivegna

3

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15 May 2018

Anna Maria Pinto

9

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15 May 2018

Emanuela Lucci Cordisco

object named as

Emanuela Lucci-Cordisco

8

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author name string

Paola Castronovo

2

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15 May 2018

Federica Mottadelli

4

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15 May 2018

Francesca Faravelli

5

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15 May 2018

Maria Luisa Giovannucci-Uzielli

6

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15 May 2018

Alice Pessagno

7

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Leonardo Salviati

10

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15 May 2018

Angelo Selicorni

11

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15 May 2018

Romano Tenconi

12

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15 May 2018

Giovanni Neri

13

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Lidia Larizza

14

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publication date

12 September 2007

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15 May 2018

published in

Genomics

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15 May 2018

volume

90

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15 May 2018

issue

5

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15 May 2018

page(s)

567-573

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15 May 2018

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

cites work

1 reference

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

7 January 2021

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

7 January 2021

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

7 January 2021

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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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

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

7 January 2021

1 reference

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

7 January 2021

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Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

7 January 2021

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

7 January 2021

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

7 January 2021

1 reference

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Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)

7 January 2021

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Genomic characterization of MOZ/CBP and CBP/MOZ chimeras in acute myeloid leukemia suggests the involvement of a damage-repair mechanism in the origin of the t(8;16)(p11;p13).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation.

7 January 2021

1 reference

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RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

7 January 2021

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Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

7 January 2021

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Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene

7 January 2021

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Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

7 January 2021

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Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

New types of MYST3-CBP and CBP-MYST3 fusion transcripts in t(8;16)(p11;p13) acute myeloid leukemias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Characterization of genomic breakpoints in MLL and CBP in leukemia patients with t(11;16).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.07.012

10.1016/J.YGENO.2007.07.012

7 January 2021

Identifiers

DOI

1 reference

15 May 2018

PubMed ID

17855048

1 reference

15 May 2018