(Q35558515)

8 August 2017

1 reference

title

Dyskeratosis congenita: its link to telomerase and aplastic anaemia (English)

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8 August 2017

main subject

dyskeratosis congenita

1 reference

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

20 March 2024

author name string

Inderjeet Dokal

1

1 reference

8 August 2017

Tom Vulliamy

2

1 reference

8 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14556776

20 March 2024

publication date

1 December 2003

1 reference

full work available at URL

8 August 2017

https://api.elsevier.com/content/article/PII:S0268960X03000201?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

https://api.elsevier.com/content/article/PII:S0268960X03000201?httpAccept=text/plain

20 March 2024

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

20 March 2024

1 reference

8 August 2017

volume

17

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8 August 2017

issue

4

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8 August 2017

page(s)

217-225

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Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature

8 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita in all its forms

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Etiologic heterogeneity in dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita in a female

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita: an autosomal recessive variant

1 reference

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7 January 2021

Dyskeratosis congenita: unusual presenting features within a kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Late vascular complications after bone marrow transplantation for dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Unusual complications after bone marrow transplantation for dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

BONE MARROW TRANSPLANT FOR DYSKERATOSIS CONGENITA

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Chromosome abnormalities in dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita is a chromosomal instability disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Haemopoietic progenitor cells in dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita with hypoplastic anemia: a stem cell defect.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Dyskeratosis congenita. Report of a large kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Assignment of the gene for dyskeratosis congenita to Xq28

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Fine mapping of the dyskeratosis congenita locus in Xq28.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

minifly, a Drosophila gene required for ribosome biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Function and synthesis of small nucleolar RNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

A telomerase component is defective in the human disease dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Telomerase in the human organism

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

1 reference

7 January 2021

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Essential role of mouse telomerase in highly proliferative organs

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Longevity, Stress Response, and Cancer in Aging Telomerase-Deficient Mice

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2803%2900020-1

7 January 2021

Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts

32

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

Dyskeratosis congenita with an unusual chromosomal abnormality

20 March 2024

38

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

20 March 2024

44

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

20 March 2024

55

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

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

20 March 2024

59

1 reference

https://api.crossref.org/works/10.1016/S0268-960X(03)00020-1

20 March 2024

Identifiers

1 reference

8 August 2017

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