(Q34605382)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

review article

1 reference

title

Cancer in dyskeratosis congenita (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

main subject

dyskeratosis congenita

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Philip S. Rosenberg

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

author name string

Blanche P Alter

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Neelam Giri

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

language of work or name

English

0 references

publication date

12 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

volume

113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

issue

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

page(s)

6549-6557

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

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

23 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

The role of telomere biology in bone marrow failure and other disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Dyskeratosis congenita; relationship to poikiloderma atrophicans vasculare and to aplastic anemia of Fanconi

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Cancer in Fanconi anemia, 1927-2001

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Dyskeratosis congenita in all its forms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Case report: gastric carcinoma as a complication of dyskeratosis congenita in an adolescent boy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

[Dyskeratosis congenita (Zinsser-Engman-Cole)]

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

X-linked dyskeratosis congenita with aplastic anemia--genetic and hematologic studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Dyskeratosis congenita in an adolescent girl with associated choanal atresia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Cancer incidence in persons with Fanconi anemia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Hazard function estimation using B-splines.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

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

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710915

Dyskeratosis congenita: its connections with oral and maxillofacial surgery

9 December 2018

1 reference

12 December 2020

1 reference

12 December 2020

Letter: Dyskeratosis congenita Zinsser-Cole-Engman form with abnormal karyotype

1 reference

12 December 2020

Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method

1 reference

12 December 2020

Dyskeratosis congenita. Report of a large kindred

1 reference

12 December 2020

[A case report of dyskeratosis congenita with pancytopenia in special reference to hemopoietic stem cells]

1 reference

12 December 2020

[Zinsser-Engman-Cole syndrome]

1 reference

12 December 2020

[Zinsser-Cole-Engman syndrome. Congenital dyskeratosis]

1 reference

12 December 2020

Dyskeratosis congenita. Haematologic, cytogenetic, and dermatologic studies

1 reference

12 December 2020

Dyskeratosis congenita with macular cutaneous amyloid deposits

1 reference

12 December 2020

[Zinsser-Engman-Cole syndrome (dyskeratosis congenita) in a 13-year-old boy]

1 reference

12 December 2020

"Stem cell" origin of the hematopoietic defect in dyskeratosis congenita

1 reference

12 December 2020

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

1 reference

12 December 2020

Dyskeratosis congenita and nasopharyngeal atresia

1 reference

12 December 2020

Oral squamous cell carcinoma in a case of dyskeratosis congenita

1 reference

12 December 2020

Congenital dyskeratosis or Zinsser-Cole-Engman dyskeratosis. A probable female case

1 reference

12 December 2020

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

1 reference

12 December 2020

Abnormal nails in a patient with severe anemia. Dyskeratosis congenita

1 reference

12 December 2020

1 reference

12 December 2020

Dyskeratosis congenita and associated interstitial lung disease: a case report

1 reference

12 December 2020

Unusual complications after bone marrow transplantation for dyskeratosis congenita

1 reference

12 December 2020

Dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris; a follow-up report of two brothers

1 reference

12 December 2020

Tongue cancer as a complication of dyskeratosis congenita in a woman

1 reference

12 December 2020

Oral carcinoma in a young man: a case of dyskeratosis congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

Dyskeratosis congenita associated with three malignancies

1 reference

12 December 2020

Unusual hypersensitivity to radiation therapy in a patient with dyskeratosis congenita syndrome

1 reference

12 December 2020

Individualized risks of first adverse events in patients with Fanconi anemia

1 reference

12 December 2020

Leukoplakia, pigment changes and ungual dystrophy. Zinsser-Cole-Engman syndrome--so-called congenital dyskeratosis

1 reference

12 December 2020

Zinsser-Engman-Cole syndrome with an extensive dyschromia of the skin

1 reference

12 December 2020

THE ASSOCIATION OF DYSKERATOSIS CONGENITA AND FANCONI'S ANAEMIA

1 reference

12 December 2020

Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants

1 reference

12 December 2020

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita

1 reference

12 December 2020

Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen

1 reference

12 December 2020

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

12 December 2020

1 reference

12 December 2020

10.1182/BLOOD-2008-12-192880

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19282459%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

PubMed publication ID

19282459

1 reference