(Q37786208)

23 August 2017

Genomic analysis of partial 21q monosomies with variable phenotypes (English)

1 reference

23 August 2017

1

Elisha D O Roberson

1 reference

23 August 2017

8

Ada Hamosh

1 reference

23 August 2017

Elizabeth Squibb Wohler

2

1 reference

23 August 2017

Julie E Hoover-Fong

3

1 reference

23 August 2017

Emily Lisi

4

1 reference

23 August 2017

Eric L Stevens

5

1 reference

23 August 2017

George H Thomas

6

1 reference

23 August 2017

Jay Leonard

7

1 reference

23 August 2017

Jonathan Pevsner

9

1 reference

23 August 2017

8 September 2010

1 reference

European Journal of Human Genetics

23 August 2017

1 reference

23 August 2017

19

1 reference

23 August 2017

2

1 reference

23 August 2017

235-238

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.150

23 August 2017

0 references

cites work

Detailed molecular and clinical characterization of three patients with 21q deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

Deletion of chromosome 21 disturbs human brain morphogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

An interstitial deletion of the long arm of chromosome 21 in a case of a first episode of psychosis.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3025784

Pure proximal deletion of chromosome 21 and kyphosis

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.150

Patient with a deletion of chromosome 21q and minimal phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20823914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME.]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20823914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.150

1 reference

23 August 2017

1 reference

23 August 2017

PubMed publication ID

20823914

1 reference