Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.
Tobai H et al.
Pediatric Blood & Cancer, 2023
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
He M et al.
The Turkish Journal of Pediatrics, 2023
Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1.
Kumar N et al.
Biomolecular Nmr Assignments, 2022
Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.
Michalski JE et al.
Journal of Inflammation Research, 2020
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Borie R et al.
The European Respiratory Journal, 2019
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Juge PA et al.
The European Respiratory Journal, 2017
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C et al.
Frontiers in Immunology, 2017
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.
Zhou W et al.
The Application of Clinical Genetics, 2016
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G et al.
British Journal of Haematology, 2015
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Kannengiesser C et al.
The European Respiratory Journal, 2015
Telomeres revisited: RTEL1 variants in pulmonary fibrosis.
Kropski JA et al.
The European Respiratory Journal, 2015
The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.
Faure G et al.
Proteins, 2014
[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].
Le Guen T et al.
Medecine Sciences : M/s, 2013
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ et al.
American Journal of Human Genetics, 2013
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