(Q36698854)

15 August 2017

The gastrointestinal manifestations of telomere-mediated disease (English)

1 reference

15 August 2017

5

Mary Armanios

1 reference

15 August 2017

Naudia L Jonassaint

1

1 reference

15 August 2017

Nini Guo

series ordinal

2

1 reference

15 August 2017

Joseph A Califano

series ordinal

3

1 reference

15 August 2017

Elizabeth A Montgomery

series ordinal

4

1 reference

15 August 2017

4 January 2013

1 reference

15 August 2017

1 reference

15 August 2017

12

1 reference

15 August 2017

2

1 reference

15 August 2017

319-323

1 reference

15 August 2017

The telomere syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Tissue-resident adult stem cell populations of rapidly self-renewing organs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Short telomeres are sufficient to cause the degenerative defects associated with aging

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Syndromes of telomere shortening

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Cancer in dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Short telomeres, even in the presence of telomerase, limit tissue renewal capacity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Essential role of mouse telomerase in highly proliferative organs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Gastrointestinal problems in a child with dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Dyskeratosis congenita: an autosomal recessive variant

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Dyskeratosis congenita: oral hyperkeratosis in association with lichenoid reaction.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

Usual interstitial pneumonia complicating dyskeratosis congenita

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3602337

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

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FACEL.12041

21 January 2018

Dyskeratosis congenita

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FACEL.12041

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

21 January 2018

1 reference

12 December 2020

Dyskeratosis congenita: report of two cases with distinct clinical presentations

1 reference

12 December 2020

Dyskeratosis congenita

1 reference

12 December 2020

Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy

1 reference

12 December 2020

Atypical dyskeratosis congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

1 reference

12 December 2020

Dyskeratosis congenita

1 reference

12 December 2020

Dyskeratosis congenita with linear areas of severe cutaneous involvement

1 reference

12 December 2020

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

1 reference

12 December 2020

Dyskeratosis congenita with esophageal and anal stricture

1 reference

12 December 2020

Dyskeratosis congenita Zinsser-Cole-Engmann Form with Abnormal Karyotype

1 reference

12 December 2020

Interstitial pulmonary disease associated with dyskeratosis congenita

1 reference

12 December 2020

Esophageal web in Zinsser-Engman-Cole-Fanconi disease

1 reference

12 December 2020

Dyskeratosis congenita: relationship to Fanconi's anemia

1 reference

12 December 2020

THE ASSOCIATION OF DYSKERATOSIS CONGENITA AND FANCONI'S ANAEMIA

1 reference

12 December 2020

Dyskeratosis congenita with esophageal stricture and dermatological manifestations

1 reference

12 December 2020

Identifiers

DOI

10.1111/ACEL.12041

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23279657

1 reference