Familial myelodysplastic syndromes: a review of the literature. (Q33395458)

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Language	Label	Description	Also known as
English	Familial myelodysplastic syndromes: a review of the literature.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Familial myelodysplastic syndromes: a review of the literature. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

author name string

Elena Liew

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Carolyn Owen

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

publication date

23 May 2011

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

96

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1536-1542

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Unraveling the Molecular Pathophysiology of Myelodysplastic Syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

T cell acute lymphoblastic leukemia arising from familial platelet disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Inherited cancer syndromes in children and young adults

1 reference

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14 July 2018

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=3186316

14 July 2018

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Chronic lymphocytic leukemia: interplay between noncoding RNAs and protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Cancer in dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Advances in the understanding of dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Diagnosis, genetics, and management of inherited bone marrow failure syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Role of RUNX1 in adult hematopoiesis: analysis of RUNX1-IRES-GFP knock-in mice reveals differential lineage expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Association of CBFA2 mutation with decreased platelet PKC-θ and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: proteins regulated by CBFA2 play a role in GPIIb-IIIa activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

A survey of telomerase activity in human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Childhood monosomy 7: epidemiology, biology, and mechanistic implications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Studies of a familial platelet disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Evidence implicating heterozygous deletion of chromosome 7 in the pathogenesis of familial leukemia associated with monosomy 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

14 July 2018

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

Microdeletion of the Down syndrome critical region at 21q22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

Prevalence of the inactivating 609C-->T polymorphism in the NAD(P)H:quinone oxidoreductase (NQO1) gene in patients with primary and therapy-related myeloid leukemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

Myelodysplastic Syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3186316

31 October 2018

Identifiers

10.3324/HAEMATOL.2011.043422

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

ResearchGate publication ID

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