4.6 Article

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

Related references

Note: Only part of the references are listed.
Article Biochemical Research Methods

VarSome: the human genomic variant search engine

Christos Kopanos et al.

BIOINFORMATICS (2019)

Article Multidisciplinary Sciences

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

Jonathan K. Alder et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Article Biochemistry & Molecular Biology

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

Payal P. Khincha et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)

Article Hematology

Telomere length is an independent prognostic marker in MDS but not in de novo AML

Jenna Williams et al.

BRITISH JOURNAL OF HAEMATOLOGY (2017)

Article Hematology

Telomere length is a critical determinant for survival in multiple myeloma

Sam Hyatt et al.

BRITISH JOURNAL OF HAEMATOLOGY (2017)

Editorial Material Biochemistry & Molecular Biology

Clinical utility gene card for: Dyskeratosis congenita - update 2015

Inderjeet Dokal et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Multidisciplinary Sciences

Direct Comparison of Flow-FISH and qPCR as Diagnostic Tests for Telomere Length Measurement in Humans

Fernanda Gutierrez-Rodrigues et al.

PLOS ONE (2014)

Article Cell Biology

Escape from Telomere-Driven Crisis Is DNA Ligase III Dependent

Rhiannon E. Jones et al.

CELL REPORTS (2014)

Article Multidisciplinary Sciences

Telomeres shorten at equivalent rates in somatic tissues of adults

Lily Daniali et al.

NATURE COMMUNICATIONS (2013)

Review Biotechnology & Applied Microbiology

Telomere length measurement-Caveats and a critical assessment of the available technologies and tools

Geraldine Aubert et al.

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2012)

Review Genetics & Heredity

The telomere syndromes

Mary Armanios et al.

NATURE REVIEWS GENETICS (2012)

Article Biochemistry & Molecular Biology

Mre11 modulates the fidelity of fusion between short telomeres in human cells

Maira Tankimanova et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

Short telomeres are preferentially elongated by telomerase in human cells

Bethan Britt-Compton et al.

FEBS LETTERS (2009)

Article Multidisciplinary Sciences

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

Rodrigo T. Calado et al.

PLOS ONE (2009)

Article Genetics & Heredity

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

Sharon A. Savage et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Multidisciplinary Sciences

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

Jonathan K. Alder et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Medicine, General & Internal

Telomerase mutations in families with idiopathic pulmonary fibrosis

Mary Y. Armanios et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Biochemistry & Molecular Biology

Structural stability and chromosome-specific telomere length is governed by cis-acting determinants in humans

B Britt-Compton et al.

HUMAN MOLECULAR GENETICS (2006)

Article Biochemical Research Methods

Flow cytometry and FISH to measure the average length of telomeres (flow FISH)

Gabriela M. Baerlocher et al.

NATURE PROTOCOLS (2006)

Article Multidisciplinary Sciences

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

M Armanios et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Genetics & Heredity

Extensive allelic variation and ultrashort telomeres in senescent human cells

DM Baird et al.

NATURE GENETICS (2003)

Article Biochemistry & Molecular Biology

Telomere measurement by quantitative PCR

RM Cawthon

NUCLEIC ACIDS RESEARCH (2002)