(Q35344729)

7 August 2017

title

Down syndrome phenotypes: the consequences of chromosomal imbalance (English)

1 reference

7 August 2017

1 reference

1 reference

J R Korenberg

1

1 reference

7 August 2017

X N Chen

2

1 reference

7 August 2017

R Schipper

3

1 reference

7 August 2017

Z Sun

4

1 reference

7 August 2017

R Gonsky

5

1 reference

7 August 2017

S Gerwehr

6

1 reference

7 August 2017

N Carpenter

7

1 reference

7 August 2017

C Daumer

8

1 reference

7 August 2017

P Dignan

9

1 reference

7 August 2017

C Disteche

10

1 reference

7 August 2017

language of work or name

English

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publication date

1 May 1994

1 reference

Proceedings of the National Academy of Sciences of the United States of America

7 August 2017

published in

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7 August 2017

volume

91

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7 August 2017

issue

11

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7 August 2017

page(s)

4997-5001

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Study of somatic chromosomes from 9 mongoloid children

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Free proximal trisomy 21 without the Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Growth and development of the brain in Down syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

High-resolution chromosome analysis in clinical medicine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43917

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

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8197171

12 December 2020

inferred from PubMed ID database lookup

The somatic chromosomes in mongolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8197171

12 December 2020

inferred from PubMed ID database lookup

A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8197171

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.91.11.4997

1 reference

release_vywrufzhxngnxl26daojxmqtfy

7 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vywrufzhxngnxl26daojxmqtfy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

43917

1 reference

7 August 2017

1 reference