(Q35194510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

Rubinstein-Taybi syndrome

12 October 2019

main subject

1 reference

Hennekam RC

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Tilanus M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Hamel BC

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Voshart-van Heeren H

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Mariman EC

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

van Beersum SE

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

van den Boogaard MJ

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Breuning MH

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

language of work or name

English

0 references

publication date

1 February 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

255-262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

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

12 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Melkersson-Rosenthal syndrome. A review of the literature and case report.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

A simple salting out procedure for extracting DNA from human nucleated cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Contiguous gene syndromes: a component of recognizable syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Rubinstein-Taybi syndrome in a mother and son.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Chromosome maps of man and mouse. IV.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Genomic imprinting: review and relevance to human diseases.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Etiology and recurrence risk in Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Growth in the Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Rubinstein-Taybi syndrome in The Netherlands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Contiguous deletion syndromes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Psychological and speech studies in Rubinstein-Taybi syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Developmental terms—some proposals: First report of an International working group

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682213

[Rubinstein-Taybi syndrome with karyotype changes and recurrent pneumopathy]

27 September 2018

1 reference

12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

12 December 2020

Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome

1 reference

12 December 2020

Intracranial angioblastic meningioma and an aged appearance in a woman with Rubinstein-Taybi syndrome

1 reference

12 December 2020

A cephalometric study in Rubinstein-Taybi syndrome

1 reference

12 December 2020

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8430692%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PubMed publication ID

8430692

1 reference