(Q48611267)

13 February 2018

title

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)] (English)

1 reference

https://api.crossref.org/works/10.1097/01.GIM.0000095625.14160.AB

chromosomal deletion syndrome

1 April 2024

main subject

Smith-Magenis syndrome

1 reference

1 reference

1 reference

PubMed ID

14614393

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14614393

1 April 2024

4

James R Lupski

1 reference

13 February 2018

Pawel Stankiewicz

series ordinal

3

object named as

Pawel Stankiewicz

1 reference

13 February 2018

author name string

Lorraine Potocki

series ordinal

1

1 reference

13 February 2018

Christine J. Shaw

series ordinal

2

1 reference

PubMed ID

14614393

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14614393

1 April 2024

language of work or name

English

0 references

publication date

1 November 2003

1 reference

13 February 2018

full work available at URL

https://www.nature.com/articles/gim2003369.pdf

file format

Portable Document Format

online access status

open access

1 reference

PubMed ID

14614393

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14614393

https://api.elsevier.com/content/article/PII:S1098360021033852?httpAccept=text/xml

1 April 2024

1 reference

https://api.crossref.org/works/10.1097/01.GIM.0000095625.14160.AB

https://api.elsevier.com/content/article/PII:S1098360021033852?httpAccept=text/plain

1 April 2024

1 reference

https://api.crossref.org/works/10.1097/01.GIM.0000095625.14160.AB

1 April 2024

1 reference

13 February 2018

volume

5

1 reference

13 February 2018

issue

6

1 reference

13 February 2018

page(s)

430-434

1 reference

13 February 2018

https://scigraph.springernature.com/pub.10.1097/01.gim.0000095625.14160.ab

exact match

0 references

cites work

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Mutations in RAI1 associated with Smith-Magenis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

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/10.1097%2F01.GIM.0000095625.14160.AB

Ophthalmic manifestations of Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Prenatal diagnosis of smith-magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000095625.14160.AB

21 January 2018

Identifiers

1 reference

13 February 2018

Dimensions Publication ID

0 references

1 reference

13 February 2018