(Q34071682)

30 July 2017

1 reference

title

Dyskeratosis congenita in all its forms (English)

1 reference

30 July 2017

dyskeratosis congenita

1 reference

Dokal I

1

1 reference

PubMed ID

11054058

30 July 2017

language of work or name

English

0 references

publication date

1 September 2000

1 reference

British Journal of Haematology

30 July 2017

1 reference

30 July 2017

110

1 reference

30 July 2017

768-779

1 reference

30 July 2017

4

1 reference

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia

30 July 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Novel predicted RNA-binding domains associated with the translation machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Telomere maintenance mechanisms and cellular immortalization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Assignment of the gene for dyskeratosis congenita to Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita: an inherited bone marrow failure syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita is a chromosomal instability disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita: an autosomal recessive variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita with hypoplastic anemia: a stem cell defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

minifly, a Drosophila gene required for ribosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Identification of new RNA modifying enzymes by iterative genome search using known modifying enzymes as probes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita in a female

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Fine mapping of the dyskeratosis congenita locus in Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Pseudouridine synthases: four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Evidence for a continuous decline in haemopoietic cell function from birth: application to evaluating bone marrow failure in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Etiologic heterogeneity in dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Another case of Pneumocystis carinii pneumonia in a patient with dyskeratosis congenita (Zinsser-Cole-Engman syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Chromosome abnormalities in dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

DYSKERATOSIS CONGENITA. FIRST REPORT OF ITS OCCURRENCE IN A FEMALE AND A REVIEW OF THE LITERATURE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Gar1p in all H BOX/ACA-motif snoRNPs and constitute a common bipartite structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

BONE MARROW TRANSPLANT FOR DYSKERATOSIS CONGENITA

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2000.02109.X

10.1046/J.1365-2141.2000.02109.X

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

11054058