(Q24514969)

title

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A (English)

0 references

main subject

human chromosome 22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

chromosomal deletion syndrome

17 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

author name string

K. Narahara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

Y. Takahashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

M. Murakami

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

K. Tsuji

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

Y. Yokoyama

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

R. Murakami

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

S. Ninomiya

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

17 September 2022

Y. Seino

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

full work available at URL

17 September 2022

language of work or name

English

0 references

publication date

June 1992

0 references

https://europepmc.org/articles/PMC1016000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

https://europepmc.org/articles/PMC1016000?pdf=render

17 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1352356

Journal of Medical Genetics

17 September 2022

published in

0 references

volume

29

0 references

page(s)

432-3

0 references

issue

6

0 references

cites work

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016000

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016000

Report of the committee on the genetic constitution of chromosome 22.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016000

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016000

Deleted ring chromosome 22 in a mentally retarded boy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016000

New method for determining ferrihemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1352356

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Determination of the breakpoints and the parental origin of a ring 22 chromosome: an analysis by high-resolution banding technique, quinacrine and silver stainings

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.29.6.432