(Q79774646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979121%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Ataxia and pancytopenia caused by a mutation in TINF2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979121%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

7

Yigal Dror

1 reference

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25 December 2019

author name string

Elena Tsangaris

1

1 reference

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25 December 2019

Sally-Lin Adams

2

1 reference

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25 December 2019

Grace Yoon

3

1 reference

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25 December 2019

David Chitayat

4

1 reference

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25 December 2019

Peter Lansdorp

5

1 reference

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25 December 2019

Inderjeet Dokal

6

1 reference

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25 December 2019

publication date

1 November 2008

1 reference

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25 December 2019

1 reference

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25 December 2019

volume

124

1 reference

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25 December 2019

issue

5

1 reference

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25 December 2019

page(s)

507-513

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-008-0576-7

25 December 2019

exact match

0 references

cites work

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TIN2, a new regulator of telomere length in human cells

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

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Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

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

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12 December 2020

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

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12 December 2020

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

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12 December 2020

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

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The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity

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12 December 2020

Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome

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12 December 2020

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

1 reference

12 December 2020

Dyskeratosis congenita: a genetic disorder of many faces

1 reference

12 December 2020

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

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12 December 2020

Ataxia-pancytopenia syndrome

1 reference

12 December 2020

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

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12 December 2020

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12 December 2020

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12 December 2020

Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes

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

1 reference

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