(Q33678528)

28 July 2017

title

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

1 reference

Rubinstein-Taybi syndrome

28 July 2017

main subject

1 reference

Wallerstein R

1

1 reference

28 July 2017

Anderson CE

2

1 reference

28 July 2017

Hay B

3

1 reference

28 July 2017

Gupta P

4

1 reference

28 July 2017

Gibas L

5

1 reference

28 July 2017

Ansari K

6

1 reference

28 July 2017

Cowchock FS

7

1 reference

28 July 2017

Weinblatt V

8

1 reference

28 July 2017

Reid C

9

1 reference

28 July 2017

Levitas A

10

1 reference

28 July 2017

Jackson L

11

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

34

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

203-206

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

Apparent dominant transmission of the Rubinstein-Taybi syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

Localization of human CREBBP (CREB Binding Protein) to 16p13.3 by fluorescence in situ hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

Rubinstein-Taybi syndrome in a mother and son.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

Rubinstein-Taybi syndrome: a natural history study.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050893

Cardiac abnormalities in the Rubinstein-Taybi syndrome

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9132490

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9132490

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9132490

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.3.203

1 reference

28 July 2017

1 reference

28 July 2017

1 reference