User profiles for "author:E Tullis"

Elizabeth Tullis

University of Toronto
Verified email at smh.ca
Cited by 20979

[HTML][HTML] Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

…, JJ Cassiman, E Kerem, P Durie, E Tullis… - Journal of cystic …, 2008 - Elsevier
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …

The future of cystic fibrosis care: a global perspective

…, S Madge, JC Davies, PR Burgel, E Tullis… - The Lancet …, 2020 - thelancet.com
Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

Guide to bone health and disease in cystic fibrosis

…, PM Joseph, K O'Brien, E Tullis… - The Journal of …, 2005 - academic.oup.com
Cystic fibrosis (CF) is the most common genetic disease within the Caucasian population
and leads to premature respiratory failure. Approximately 60,000 individuals are currently …

[HTML][HTML] A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation

…, J Davies, NG McElvaney, E Tullis… - … England Journal of …, 2011 - Mass Medical Soc
Background Increasing the activity of defective cystic fibrosis transmembrane conductance
regulator (CFTR) protein is a potential treatment for cystic fibrosis. Methods We conducted a …

[HTML][HTML] Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele

…, BW Ramsey, JL Taylor-Cousar, E Tullis… - … England Journal of …, 2019 - Mass Medical Soc
Background Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis
transmembrane conductance regulator (CFTR) protein, and nearly 90% of patients have at …

Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double …

…, DG Downey, E Van Braeckel, SM Rowe, E Tullis… - The Lancet, 2019 - thelancet.com
Background Cystic fibrosis transmembrane conductance regulator (CFTR) modulators
correct the basic defect caused by CFTR mutations. Improvements in health outcomes have …

[HTML][HTML] VX-445–tezacaftor–ivacaftor in patients with cystic fibrosis and one or two Phe508del alleles

…, SM Rowe, LA Sass, E Tullis… - New england journal …, 2018 - Mass Medical Soc
Background VX-445 is a next-generation cystic fibrosis transmembrane conductance
regulator (CFTR) corrector designed to restore Phe508del CFTR protein function in patients …

[HTML][HTML] Recommendations for the classification of diseases as CFTR-related disorders

…, KW Southern, M Stuhrmann, E Tullis… - Journal of Cystic …, 2011 - Elsevier
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …

[HTML][HTML] Tezacaftor–ivacaftor in residual-function heterozygotes with cystic fibrosis

…, E Kerem, J Wilson, E Tullis… - … England Journal of …, 2017 - Mass Medical Soc
Background Cystic fibrosis is an autosomal recessive disease caused by mutations in the
CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show …

[HTML][HTML] Triple Therapy for Cystic Fibrosis Phe508del–Gating and –Residual Function Genotypes

…, S Sutharsan, JL Taylor-Cousar, E Tullis… - … England Journal of …, 2021 - Mass Medical Soc
Background Elexacaftor–tezacaftor–ivacaftor is a small-molecule cystic fibrosis
transmembrane conductance regulator (CFTR) modulator regimen shown to be efficacious …