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Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaThe telomere syndromesThe short and long telomere syndromes: paired paradigms for molecular medicineTelomerase and idiopathic pulmonary fibrosisLoss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaSyndromes of telomere shorteningShort telomeres compromise β-cell signaling and survival.Short telomeres, even in the presence of telomerase, limit tissue renewal capacity.Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomeraseTelomere dysfunction causes alveolar stem cell failureExome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.Radiation Sensitivity and Radiation Necrosis in the Short Telomere SyndromesThe gastrointestinal manifestations of telomere-mediated disease.Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.Telomeres and age-related disease: how telomere biology informs clinical paradigmsEvaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).Dyskeratosis congenita: the first NIH clinical research workshop.Short telomeres are sufficient to cause the degenerative defects associated with agingTelomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneIPF lung fibroblasts have a senescent phenotype.Germline mutations in DNA repair genes in lung adenocarcinoma.Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care.The Intersection Of Aging Biology and The Pathobiology of Lung Diseases: A Joint NHLBI/NIA Workshop.Reply: telomerase makes connections between pulmonary fibrosis and emphysema.What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis.Adjuvant chemotherapy for resected adenocarcinoma of the esophagus, gastro-esophageal junction, and cardia: phase II trial (E8296) of the Eastern Cooperative Oncology Group.Translational strategies in aging and age-related disease.CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 41-2015. A 14-Year-Old Boy with Immune and Liver Abnormalities.Diagnostic utility of telomere length testing in a hospital-based setting.Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells.Case 41-2015: A Boy with Immune and Liver Abnormalities.Shall we call them "telomere-mediated"? Renaming the idiopathic after the cause is found.Telomerase mutations and the pulmonary fibrosis-bone marrow failure syndrome complex.Treating Myeloproliferation--On Target or Off?Short telomere syndromes cause a primary T cell immunodeficiency
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name
Mary Armanios
@ast
Mary Armanios
@en
Mary Armanios
@nl
type
label
Mary Armanios
@ast
Mary Armanios
@en
Mary Armanios
@nl
prefLabel
Mary Armanios
@ast
Mary Armanios
@en
Mary Armanios
@nl
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100146331982018692481
P31
P7859
lccn-n2016183326