(Q83120937)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

https://api.crossref.org/works/10.1002/AJMG.A.33801

19 January 2020

Monosomy 21q22.11‐q22.13 presenting as a Fanconi anemia phenotype (English)

1 reference

21 November 2024

1 reference

1 reference

Theodore Zwerdling

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Billur Moghaddam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Mary Beth Steinfeld

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Robert S. Byrd

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21204218

21 November 2024

Joseph D. Pinter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21204218

21 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21204218

21 November 2024

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

January 2011

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21204218

full work available at URL

21 November 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33801

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33801

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

American Journal of Medical Genetics

21 November 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

155A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

120-125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

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

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Microdeletion of the Down syndrome critical region at 21q22.

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Monosomy 21q: two cases of del(21q) and review of the literature.

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

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

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

Deletion of chromosome 21 disturbs human brain morphogenesis

21 November 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.33801

21 November 2024

Identifiers

DOI

10.1002/AJMG.A.33801

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21204218%20AND%20SRC:MED&resulttype=core&format=json