(Q36835982)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

meta-analysis

0 references

title

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

Smith-Magenis syndrome

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Edelman EA

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Girirajan S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Finucane B

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Lupski JR

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Smith AC

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Elsea SH

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

1 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

540-550

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00815.X

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00815.X

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00815.X

Ophthalmic manifestations of Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00815.X

The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00815.X

Familial aggregation and prevalence of myopia in the Framingham Offspring Eye Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00815.X

10.1111/J.1399-0004.2007.00815.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17539903%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference