(Q52172536)

26 April 2018

title

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

1 reference

26 April 2018

author name string

Sigurdardottir S

1

1 reference

26 April 2018

Goodman BK

2

1 reference

26 April 2018

Rutberg J

3

1 reference

26 April 2018

Thomas GH

4

1 reference

26 April 2018

Jabs EW

5

1 reference

26 April 2018

Geraghty MT

6

1 reference

26 April 2018

publication date

1 December 1999

1 reference

26 April 2018

American Journal of Medical Genetics Part A

published in

1 reference

26 April 2018

volume

87

1 reference

26 April 2018

issue

5

1 reference

26 April 2018

page(s)

384-390

1 reference

26 April 2018

Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

A ring chromosome 9 in an infant with malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

Further study of genetic interactions: loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

Asymmetry and skin pigmentary anomalies in chromosome mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991222%2987%3A5%3C384%3A%3AAID-AJMG3%3E3.0.CO%3B2-R

10.1002/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

26 April 2018

1 reference

26 April 2018