(Q48037972)

7 June 2018

title

Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis (English)

1 reference

7 June 2018

1 reference

Jonathan Andrew Kropski

1

object named as

Jonathan A Kropski

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7 June 2018

Tasha E Fingerlin

10

object named as

Tasha E Fingerlin

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7 June 2018

author name string

Lisa R Young

2

1 reference

7 June 2018

Joy D Cogan

3

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7 June 2018

Daphne B Mitchell

4

1 reference

7 June 2018

Lisa H Lancaster

5

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7 June 2018

John A Worrell

6

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7 June 2018

Cheryl Markin

7

1 reference

7 June 2018

Na Liu

8

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7 June 2018

Wendi R Mason

9

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7 June 2018

David A Schwartz

11

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7 June 2018

William E Lawson

12

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7 June 2018

Timothy S Blackwell

13

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7 June 2018

John A Phillips

14

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7 June 2018

James E Loyd

15

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7 June 2018

language of work or name

English

0 references

publication date

1 June 2017

1 reference

7 June 2018

American Journal of Respiratory and Critical Care Medicine

published in

1 reference

7 June 2018

volume

195

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7 June 2018

issue

11

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7 June 2018

page(s)

1423-1428

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7 June 2018

Development and Progression of Interstitial Lung Abnormalities in the Framingham Heart Study.

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Pirfenidone for idiopathic pulmonary fibrosis: analysis of pooled data from three multinational phase 3 trials

8 June 2018

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Efficacy of Nintedanib in Idiopathic Pulmonary Fibrosis across Prespecified Subgroups in INPULSIS.

8 June 2018

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TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis

8 June 2018

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Association between telomere length and survival in patients with idiopathic pulmonary fibrosis

8 June 2018

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Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

8 June 2018

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

8 June 2018

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The genetic basis of idiopathic pulmonary fibrosis

8 June 2018

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

8 June 2018

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Rare variants in RTEL1 are associated with familial interstitial pneumonia

8 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere length measurement in humans.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

The MUC5B promoter polymorphism is associated with idiopathic pulmonary fibrosis in a Mexican cohort but is rare among Asian ancestries.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Efficacy and safety of nintedanib in idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Peripheral blood mononuclear cell gene expression profiles predict poor outcome in idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

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

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Peripheral blood proteins predict mortality in idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

A common MUC5B promoter polymorphism and pulmonary fibrosis.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Procoagulant alveolar microparticles in the lungs of patients with acute respiratory distress syndrome

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Telomere shortening in familial and sporadic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Early interstitial lung disease in familial pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Adult-onset pulmonary fibrosis caused by mutations in telomerase

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Telomerase mutations in families with idiopathic pulmonary fibrosis

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

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

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Clinical and pathologic features of familial interstitial pneumonia

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

A mutation in the surfactant protein C gene associated with familial interstitial lung disease

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Telomere length dynamics in human lymphocyte subpopulations measured by flow cytometry.

8 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Telomere length in interstitial lung diseases.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470751

MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27786550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1164/RCCM.201609-1820PP

1 reference

7 June 2018

PMC publication ID

5470751

1 reference

7 June 2018

PubMed publication ID

27786550

1 reference

7 June 2018