The wide-ranging clinical implications of the short telomere syndromes

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

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

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

(2015) Bridget D Stuart et al.   NATURE GENETICS

Bone marrow failure and the telomeropathies

(2014) D. M. Townsley et al.   BLOOD

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

(2014) Y. Guo et al.   BLOOD

Response to androgen therapy in patients with dyskeratosis congenita

(2014) Payal P. Khincha et al.   BRITISH JOURNAL OF HAEMATOLOGY

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

(2014) L. L. Silhan et al.   EUROPEAN RESPIRATORY JOURNAL

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

(2014) Hande Kocak et al.   GENES & DEVELOPMENT

Peripheral blood lymphocyte telomere length as a predictor of response to immunosuppressive therapy in childhood aplastic anemia

(2014) H. Sakaguchi et al.   HAEMATOLOGICA

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

(2013) Amanda J. Walne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Outcomes of Allogeneic Hematopoietic Cell Transplantation in Patients with Dyskeratosis Congenita

(2013) Shahinaz M. Gadalla et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus

(2013) Blanche P. Alter et al.   INTERNATIONAL JOURNAL OF CANCER

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

(2013) Bari J Ballew et al.   Expert Review of Hematology

RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity

(2012) Jean-Baptiste Vannier et al.   CELL

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

(2012) Jayakrishnan Nandakumar et al.   NATURE

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

CTC1 Mutations in a patient with dyskeratosis congenita

(2012) Rachel B. Keller et al.   PEDIATRIC BLOOD & CANCER

The genetics of dyskeratosis congenita

(2012) Philip J. Mason et al.   Cancer Genetics

Human CST Has Independent Functions during Telomere Duplex Replication and C-Strand Fill-In

(2012) Feng Wang et al.   Cell Reports

Clinical utility gene card for: Dyskeratosis congenita

(2011) Inderjeet Dokal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial myelodysplastic syndromes: a review of the literature

(2011) E. Liew et al.   HAEMATOLOGICA

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

(2011) B. P. Alter et al.   HAEMATOLOGICA

Constitutional telomerase mutations are genetic risk factors for cirrhosis

(2011) Rodrigo T. Calado et al.   HEPATOLOGY

Telomerase and idiopathic pulmonary fibrosis

(2011) Mary Armanios   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

The genetics and clinical manifestations of telomere biology disorders

(2010) Sharon A. Savage et al.   GENETICS IN MEDICINE

Association of Telomere Length of Peripheral Blood Leukocytes With Hematopoietic Relapse, Malignant Transformation, and Survival in Severe Aplastic Anemia

(2010) Phillip Scheinberg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

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

A Human Telomerase Holoenzyme Protein Required for Cajal Body Localization and Telomere Synthesis

(2009) A. S. Venteicher et al.   SCIENCE

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

Telomeres and Aging

(2008) Geraldine Aubert et al.   PHYSIOLOGICAL REVIEWS

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

Defects in telomere maintenance molecules impair osteoblast differentiation and promote osteoporosis

(2007) Robert J. Pignolo et al.   AGING CELL

Oral and dental phenotype of dyskeratosis congenita

(2007) JC Atkinson et al.   ORAL DISEASES