(Q33671381)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

A case of partial monosomy 21q22.2 associated with Rieger's syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

author name string

F Nielsen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

L Trånebjaerg

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

language of work or name

English

0 references

publication date

1 June 1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

11 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

page(s)

218-221

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

Reiger's syndrome with chromosomal anomaly (report of a case)

11 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049271

Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049271

Rieger's syndrome with pericentric inversion of chromosome 6.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049271

An improved spectrophotometric assay for superoxide dismutase based on epinephrine autoxidation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049271

A case of 21q-syndrome with normal SOD-1 activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049271

Down syndrome due to partial trisomy 21q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049271

The anterior chamber cleavage syndrome

21 June 2018

1 reference

12 December 2020

A male infant with monosomy 21

1 reference

12 December 2020

Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1

1 reference

12 December 2020

[PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME.]

1 reference

12 December 2020

Monosomy 21: A possible stepwise evolution of the karyotype

1 reference

12 December 2020

Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation

1 reference

12 December 2020

Moderate Down's syndrome in three siblings having partial trisomy 21q22.2?qter and therefore no SOD-1 excess

1 reference

12 December 2020

Pathologic features of the eye in trisomy 9

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.21.3.218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6431108%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

PubMed publication ID

6431108

1 reference