Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

(2016) Siobán B. Keel et al.   HAEMATOLOGICA

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

(2016) Siobán B. Keel et al.   HAEMATOLOGICA

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

(2015) Clemens Stockklausner et al.   Aging-US

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

(2015) Hemanth Tummala et al.   JOURNAL OF CLINICAL INVESTIGATION

Human telomere biology: A contributory and interactive factor in aging, disease risks, and protection

(2015) E. H. Blackburn et al.   SCIENCE

A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome

(2014) Yasutaka Ueda et al.   BMC Medical Genetics

Telomeropathies: An emerging spectrum disorder

(2014) Brody Holohan et al.   JOURNAL OF CELL BIOLOGY

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

(2013) Tangui Le Guen et al.   HUMAN MOLECULAR GENETICS

High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita

(2012) J. Carrillo et al.   BLOOD CELLS MOLECULES AND DISEASES

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

(2012) Beverley H Anderson et al.   NATURE GENETICS

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

(2011) F. Zhong et al.   GENES & DEVELOPMENT

Telomerase gene mutations are associated with cirrhosis formation

(2011) Daniel Hartmann et al.   HEPATOLOGY

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

(2011) Tom J. Vulliamy et al.   PLoS One

Specificity and Stoichiometry of Subunit Interactions in the Human Telomerase Holoenzyme Assembled In Vivo

(2010) Emily D. Egan et al.   MOLECULAR AND CELLULAR BIOLOGY

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

(2010) Alberto Diaz de Leon et al.   PLoS One

Syndromes of Telomere Shortening

(2009) Mary Armanios   Annual Review of Genomics and Human Genetics

Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations

(2009) R. T. Calado et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

(2009) Michael Kirwan et al.   HUMAN MUTATION

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

(2009) Rodrigo T. Calado et al.   PLoS One

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia

(2009) R. T. Calado et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

(2008) Sharon A. Savage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements

(2008) H.-Y. Du et al.   BLOOD

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

(2008) A. J. Walne et al.   BLOOD

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

(2008) L. Basel-Vanagaite et al.   HAEMATOLOGICA

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

(2008) T. Vulliamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA