(Q52047730)

20 April 2018

title

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) (English)

1 reference

20 April 2018

Diagnostic hand anomalies in Smith-Magenis syndrome: Four new patients with del (17)(p11.2p11.2) (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

chromosomal deletion syndrome

22 November 2022

main subject

Smith-Magenis syndrome

1 reference

based on heuristic

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

author name string

I. Kondo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

S. Matsuura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

K. Kuwajima

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

M. Tokashiki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

Y. Izumikawa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

K. Naritomi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

N. Niikawa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

T. Kajii

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785639

22 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1785639

22 November 2022

publication date

1 November 1991

1 reference

20 April 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320410219

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320410219

22 November 2022

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

American Journal of Medical Genetics Part A

22 November 2022

published in

1 reference

20 April 2018

volume

41

1 reference

20 April 2018

issue

2

1 reference

20 April 2018

page(s)

225-229

1 reference

20 April 2018

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome).

cites work

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding

22 November 2022

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

22 November 2022

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Paediatria Universitatis Tokyo

22 November 2022

7

13

43

Matsui

1966

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Radiographic measurements of metacarpophalangeal lengths in Japanese children

22 November 2022

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Interstitial deletion of the short arm of chromosome 17

22 November 2022

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

An additional case of deletion 17p11.2.

22 November 2022

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Interstitial deletion of (17)(p11.2p11.2) in nine patients

22 November 2022

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

22 November 2022

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

The use of dermal configurations in the diagnosis of mongolism

22 November 2022

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410219

22 November 2022

Identifiers

1 reference

20 April 2018

1 reference

20 April 2018