(Q78513392)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

J R Vermeesch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

E Baten

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

J-P Fryns

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

K Devriendt

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

415-417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

Ring chromosome 7 and sacral agenesis

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

An optimized set of human telomere clones for studying telomere integrity and architecture.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Interstitial telomeric sequences at the junction site of a jumping translocation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

Insertion of a telomere repeat sequence into a mammalian gene causes chromosome instability

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.620511.X

7 January 2021

10.1034/J.1399-0004.2002.620511.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12431259%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference