(Q39419169)

11 September 2017

Expanding our knowledge of conditions associated with the ASXL gene family (English)

1 reference

11 September 2017

Bianca Russell

1

1 reference

PMCID

3706972

11 September 2017

John M Graham

series ordinal

2

1 reference

11 September 2017

21 February 2013

1 reference

11 September 2017

1 reference

11 September 2017

5

1 reference

11 September 2017

2

1 reference

11 September 2017

16

1 reference

https://scigraph.springernature.com/pub.10.1186/gm420

11 September 2017

0 references

cites work

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

Identification and characterization of ASXL3 gene in silico.

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 August 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

21 August 2018

https://api.crossref.org/works/10.1186%2FGM420

A case of probable Bohring-Opitz syndrome with medulloblastoma.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706972

21 August 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23672984

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23672984

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/GM420

1 reference

PMCID

3706972

Dimensions Publication ID

11 September 2017

0 references

1 reference

11 September 2017

1 reference

PMCID

3706972