(Q51915868)

17 April 2018

title

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

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17 April 2018

Rubinstein-Taybi syndrome

main subject

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inferred from title

Contiguous gene syndrome

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chromosome 16p13.3 deletion syndrome

inferred from title

1 reference

9

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17 April 2018

author name string

Oliver Bartsch

1

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17 April 2018

Sasan Rasi

2

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17 April 2018

Alicia Delicado

3

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17 April 2018

Sarah Dyack

4

1 reference

17 April 2018

Luitgard M Neumann

5

1 reference

17 April 2018

Eva Seemanová

6

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17 April 2018

Marianne Volleth

7

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17 April 2018

Thomas Haaf

8

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17 April 2018

publication date

17 June 2006

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17 April 2018

published in

Human Genetics

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17 April 2018

volume

120

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17 April 2018

issue

2

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17 April 2018

page(s)

179-186

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17 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-006-0215-0

exact match

0 references

cites work

Rubinstein-Taybi Syndrome with thymic hypoplasia

1 reference

12 December 2020

Molecular basis of deficient IL-2 production in T cells from patients with systemic lupus erythematosus

1 reference

12 December 2020

Rubinstein-Taybi syndrome and hypoplastic left heart

1 reference

12 December 2020

Cardiac abnormalities in the Rubinstein-Taybi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation of DNASE1 in people with systemic lupus erythematosus

1 reference

12 December 2020

1 reference

12 December 2020

Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.

1 reference

12 December 2020

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

1 reference

12 December 2020

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

1 reference

12 December 2020

Dominant inheritance of a syndrome similar to Rubinstein-Taybi

1 reference

12 December 2020

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

1 reference

12 December 2020

Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations

1 reference

12 December 2020

Human diseases with underlying defects in chromatin structure and modification.

1 reference

12 December 2020

Etiology and recurrence risk in Rubinstein-Taybi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rubinstein‐Taybi syndrome medical guidelines

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-006-0215-0

Identifiers

DOI

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17 April 2018

PubMed ID

16783566

1 reference

17 April 2018