Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. (Q33592856)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

review article

1 reference

title

Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

author name string

S J Fennell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

J W Benson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

A D Kindley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

M J Schwarz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

B Czepulkowski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

language of work or name

English

0 references

publication date

1 March 1989

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

2 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

page(s)

167-171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

Chromosome deletion and multiple cartilaginous exostoses

2 October 2019

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015577

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

14 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015577

Small structural changes of chromosome 8. Two cases with evidence for deletion

14 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015577

Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23

14 July 2018

1 reference

12 December 2020

Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

1 reference

12 December 2020

A final word on the tricho-rhino-phalangeal syndromes

1 reference

12 December 2020

The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

1 reference

12 December 2020

A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome

1 reference

12 December 2020

8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I

1 reference

12 December 2020

Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.26.3.167

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2651669%20AND%20SRC:MED&resulttype=core&format=json

2 October 2019

PubMed publication ID

2651669

1 reference