Clinical utility gene card for: familial erythrocytosis (Q35899376)

11 August 2017

Clinical utility gene card for: familial erythrocytosis (English)

1 reference

11 August 2017

Kais Hussein

1

1 reference

11 August 2017

Melanie Percy

series ordinal

2

1 reference

11 August 2017

Mary Frances McMullin

series ordinal

3

1 reference

11 August 2017

25 January 2012

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

20

1 reference

11 August 2017

5

1 reference

11 August 2017

580-583

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.252

11 August 2017

0 references

cites work

Idiopathic erythrocytosis: a disappearing entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Clinical and hematological presentation of children and adolescents with polycythemia vera

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

A new alpha-globin variant with increased oxygen affinity in a Swiss family: Hb Frauenfeld [alpha 138(H21)Ser-->Phe, TCC>TTC (alpha 2)].

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Congenital polycythemias/erythrocytoses.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Endemic polycythemia in Russia: mutation in the VHL gene.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330227

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.252

High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp-->Asn, GAC-->AAC]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22274579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22274579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.252

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22274579

1 reference