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List of works by Mary Armanios

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

scientific article published on 27 April 2016

Adjuvant chemotherapy for resected adenocarcinoma of the esophagus, gastro-esophageal junction, and cardia: phase II trial (E8296) of the Eastern Cooperative Oncology Group

scientific article published in November 2004

CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 41-2015. A 14-Year-Old Boy with Immune and Liver Abnormalities

scientific article published in December 2015

Case 41-2015: A Boy with Immune and Liver Abnormalities

scientific article

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

scientific article

Diagnostic utility of telomere length measurement in a hospital setting

Diagnostic utility of telomere length testing in a hospital-based setting

scientific article published on 20 February 2018

Dyskeratosis congenita: the first NIH clinical research workshop

scientific article published on September 2009

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

scientific article published on 27 April 2016

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis

scientific article published on May 2015

Germline mutations in DNA repair genes in lung adenocarcinoma

scientific article published on 23 August 2017

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

scientific article

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

scientific article

IPF lung fibroblasts have a senescent phenotype

scientific article published on 31 August 2017

Impaired CMV Immunity in Idiopathic Pulmonary Fibrosis Lung Transplant Recipients with Short Telomeres

article

Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).

scientific article published on 5 August 2016

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

scientific article published on 11 April 2016

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

scientific journal article

Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes

scientific article

Reply: telomerase makes connections between pulmonary fibrosis and emphysema

scientific article published on March 2014

Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells

scientific article published on 12 August 2016

Shall we call them "telomere-mediated"? Renaming the idiopathic after the cause is found

scientific article

Short telomere syndromes cause a primary T cell immunodeficiency

scientific article published on 22 October 2018

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

scientific article published on December 2009

Short telomeres compromise β-cell signaling and survival

scientific article

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

scientific article

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

scientific article published on March 24, 2011

Syndromes of telomere shortening

scientific article

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

scientific article published on May 2017

Telomerase Mutations and the Pulmonary Fibrosis–Bone Marrow Failure Syndrome Complex ⬇️

scientific article published on July 26, 2012

Telomerase and idiopathic pulmonary fibrosis ⬇️

scientific article published on November 4, 2011

Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care

scientific article published on December 2016

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene ⬇️

scientific article published on September 11, 2013

Telomere dysfunction causes alveolar stem cell failure

scientific article published on 3 April 2015

Telomeres and age-related disease: how telomere biology informs clinical paradigms

scientific article published on March 2013

The Intersection Of Aging Biology and The Pathobiology of Lung Diseases: A Joint NHLBI/NIA Workshop

scientific article

The gastrointestinal manifestations of telomere‐mediated disease ⬇️

scientific article published on January 4, 2013

The short and long telomere syndromes: paired paradigms for molecular medicine

scientific article

The telomere syndromes ⬇️

scientific article published on September 11, 2012

Translational strategies in aging and age-related disease

scientific article

Treating Myeloproliferation--On Target or Off?

scientific article

What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis

scientific article published in March 2015

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