(Q34172804)

31 July 2017

title

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype (English)

1 reference

31 July 2017

1 reference

1 reference

8

R West

0 references

author name string

J R Korenberg

1

1 reference

31 July 2017

H Kawashima

2

1 reference

31 July 2017

S M Pulst

3

1 reference

31 July 2017

T Ikeuchi

4

1 reference

31 July 2017

N Ogasawara

5

1 reference

31 July 2017

K Yamamoto

6

1 reference

31 July 2017

S A Schonberg

7

1 reference

31 July 2017

L Allen

9

1 reference

31 July 2017

E Magenis

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 August 1990

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

47

1 reference

31 July 2017

issue

2

1 reference

31 July 2017

page(s)

236-246

1 reference

Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion.

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Isolation and regional mapping of DNA sequences unique to human chromosome 21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Free proximal trisomy 21 without the Down syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Normal phenotype and partial trisomy for the G positive region of chromosome 21

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Partial trisomy 21 (21q21 - 21q22.2)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Clinical diagnosis of Down's syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

High-resolution chromosome analysis in clinical medicine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683719

Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes

5 July 2018

1 reference

12 December 2020

Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns

1 reference

12 December 2020

Terminal deletion(4)(q33) in a male infant

1 reference

12 December 2020

Localization of the beta-globin gene to 11p15 by in situ hybridization: utilization of chromosome 11 rearrangements

1 reference

12 December 2020

Impaired neurotransmitter uptake in PC12 cells overexpressing human Cu/Zn-superoxide dismutase--implication for gene dosage effects in Down syndrome

1 reference

12 December 2020

A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess

1 reference

12 December 2020

Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase

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

Identifiers

PMC publication ID

1683719

1 reference

31 July 2017

1 reference