Telomere length in inherited bone marrow failure syndromes - Wikidata - awgldk - TriplyDB

Telomere length in inherited bone marrow failure syndromes

Telomere length in inherited bone marrow failure syndromes

http://www.wikidata.org/entity/Q34798016

about

Interplay between Fanconi anemia and homologous recombination pathways in genome integrity Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder Reversibility of Defective Hematopoiesis Caused by Telomere Shortening in Telomerase Knockout Mice.Anemia of Central Origin.Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Fanconi anemia proteins in telomere maintenance.Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis Association of telomere length in peripheral leukocytes with chronic hepatitis B and hepatocellular carcinoma.Aplastic anemia and clonal evolution: germ line and somatic genetics.Mechanisms of DNA damage, repair, and mutagenesis.FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres.Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.

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P2860

Telomere length in inherited bone marrow failure syndromes

http://www.wikidata.org/entity/Q34798016

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Telomere length in inherited bone marrow failure syndromes

@ast

Telomere length in inherited bone marrow failure syndromes

@en

Telomere length in inherited bone marrow failure syndromes

@nl

type

label

Telomere length in inherited bone marrow failure syndromes

@ast

Telomere length in inherited bone marrow failure syndromes

@en

Telomere length in inherited bone marrow failure syndromes

@nl

prefLabel

Telomere length in inherited bone marrow failure syndromes

@ast

Telomere length in inherited bone marrow failure syndromes

@en

Telomere length in inherited bone marrow failure syndromes

@nl

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HAEMATOL.2014.114389

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P1476

Telomere length in inherited bone marrow failure syndromes

@en

P2093

Blanche P Alter

http://www.w3.org/2001/XMLSchema#string

Neelam Giri

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the SBDS gene in acquired aplastic anemia

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

How telomeres solve the end-protection problem.

Abnormal telomere metabolism in Fanconi's anaemia correlates with genomic instability and the probability of developing severe aplastic anaemia.

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

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49-54

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scholarly article

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10.3324/HAEMATOL.2014.114389

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1

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100

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Philip S Rosenberg

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telomere length

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4281312

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