(Q36125189)

12 August 2017

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders (English)

1 reference

12 August 2017

hepatopulmonary syndrome

1 reference

13

Mary Armanios

1 reference

12 August 2017

Amany I Gorgy

1

1 reference

12 August 2017

Naudia L Jonassaint

2

1 reference

12 August 2017

Susan E Stanley

3

1 reference

12 August 2017

Ayman Koteish

4

1 reference

12 August 2017

Amy E DeZern

5

1 reference

12 August 2017

Jolan E Walter

6

1 reference

12 August 2017

Sabrina C Sopha

7

1 reference

12 August 2017

James P Hamilton

8

1 reference

12 August 2017

Julie Hoover-Fong

9

1 reference

12 August 2017

Allen R Chen

10

1 reference

12 August 2017

Robert A Anders

11

1 reference

12 August 2017

Ihab R Kamel

12

1 reference

12 August 2017

language of work or name

English

0 references

publication date

9 July 2015

1 reference

12 August 2017

1 reference

12 August 2017

148

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12 August 2017

4

1 reference

12 August 2017

1019-1026

1 reference

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Telomere dysfunction causes alveolar stem cell failure

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Rare variants in RTEL1 are associated with familial interstitial pneumonia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Telomerase mutations in smokers with severe emphysema.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

The gastrointestinal manifestations of telomere-mediated disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

2 October 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=4594621

Idiopathic noncirrhotic portal hypertension.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Short telomeres compromise β-cell signaling and survival

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

A spectrum of severe familial liver disorders associate with telomerase mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Liver transplantation for pulmonary vascular complications of pediatric end-stage liver disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Hepatopulmonary syndrome--a liver-induced lung vascular disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Adult-onset pulmonary fibrosis caused by mutations in telomerase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Telomerase mutations in families with idiopathic pulmonary fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

A boy with breathlessness, digital clubbing and central cyanosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Dyskeratosis congenita in all its forms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Hepatopulmonary syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Telomeres shorten during ageing of human fibroblasts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Micronodular transformation (nodular regenerative hyperplasia) of the liver: a report of 64 cases among 2,500 autopsies and a new classification of benign hepatocellular nodules

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Nodular regenerative hyperplasia of the liver associated with macroglobulinemia. A clue to the pathogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

23 September 2018

Dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594621

Hepatopulmonary syndrome after allogeneic bone marrow transplantation

21 October 2018

1 reference

12 December 2020

Prevalence of hepatopulmonary syndrome in cirrhosis and extrahepatic portal venous obstruction

1 reference

12 December 2020

Hepatopulmonary syndrome in children with cirrhotic and non-cirrhotic portal hypertension: a single-center experience

1 reference

12 December 2020

Multiple intrapulmonary arteriovenous fistulas in childhood

1 reference

12 December 2020

Hepatopulmonary syndrome: prevalence and clinical profile

1 reference

12 December 2020

Identifiers

DOI

10.1378/CHEST.15-0825

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

26158642

1 reference