User profiles for "author:E Tullis"
Elizabeth TullisUniversity 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
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 …
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …
The future of cystic fibrosis care: a global perspective
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 …
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
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 …
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
Background Increasing the activity of defective cystic fibrosis transmembrane conductance
regulator (CFTR) protein is a potential treatment for cystic fibrosis. Methods We conducted a …
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 …
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 …
Background Cystic fibrosis transmembrane conductance regulator (CFTR) modulators
correct the basic defect caused by CFTR mutations. Improvements in health outcomes have …
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 …
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 …
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …
[HTML][HTML] Tezacaftor–ivacaftor in residual-function heterozygotes with cystic fibrosis
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 …
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 …
transmembrane conductance regulator (CFTR) modulator regimen shown to be efficacious …