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A phase 3, double-blind, parallel-group study to evaluate the efficacy and safety of tezacaftor in combination with ivacaftor in participants 6 through 11 years of age with cystic fibrosis homozygous for F508del or heterozygous for the F508del-CFTR mutation and a residual function mutation

Journal of cystic fibrosis, 2021-01, Vol.20 (1), p.68-77

2021

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The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

Journal of cystic fibrosis, 2014-07, Vol.13 (4), p.403-409

2014

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Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Asian journal of andrology, 2023-01, Vol.25 (1), p.58-65

2023

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CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context

The Lancet regional health. Southeast Asia, 2024-08, Vol.27, p.100434

2024

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CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India

The Lancet regional health. Southeast Asia, 2024-08, Vol.27, p.100434, Article 100434

2024

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Dépistage néonatal de la mucoviscidose en France : aspects pratiques et perspectives

Perfectionnement en Pédiatrie, 2019-06, Vol.2 (2), p.163-171

2019

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A phase 3, randomized, double-blind, parallel-group study to evaluate tezacaftor/ivacaftor in people with cystic fibrosis heterozygous for F508del-CFTR and a gating mutation

Journal of cystic fibrosis, 2021-03, Vol.20 (2), p.234-242

2021

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

Frontiers in pharmacology, 2020-02, Vol.10, p.1662-1662

Lopes-Pacheco, Miquéias

2020

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Clinical efficacy of CFTR modulator therapy in people with cystic fibrosis carrying the I1234V mutation

Journal of cystic fibrosis, 2024-03

2024

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CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank

Cell stem cell, 2020-04, Vol.26 (4), p.503-510.e7

2020

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Cystic Fibrosis: Emergence of Highly Effective Targeted Therapeutics and Potential Clinical Implications

American journal of respiratory and critical care medicine, 2020-05, Vol.201 (10), p.1193-1208

2020

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Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

The Journal of pediatrics, 2017-02, Vol.181, p.S27-S32.e1

2017

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Advanced pulmonary drug delivery formulations for the treatment of cystic fibrosis

Drug discovery today, 2023-10, Vol.28 (10), p.103729-103729, Article 103729

2023

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Discovery of CFTR modulators for the treatment of cystic fibrosis

Expert opinion on drug discovery, 2021-08, Vol.16 (8), p.897-913

2021

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CFTR Modulator Therapy for Rare CFTR Mutants

Journal of respiration, 2022-04, Vol.2 (2), p.59-76

2022

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Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening

Journal of cystic fibrosis, 2012-05, Vol.11 (3), p.257-260

2012

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Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation

American journal of respiratory and critical care medicine, 2013-06, Vol.187 (11), p.1219-1225

2013

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Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects

Cells (Basel, Switzerland), 2020-03, Vol.9 (3), p.754

2020

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Aberrant immune programming in neutrophils in cystic fibrosis

Journal of leukocyte biology, 2024-02, Vol.115 (3), p.420

2024

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Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis

Cell biochemistry and biophysics, 2024-03, Vol.82 (1), p.15-34

2024

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The effect of cystic fibrosis transmembrane conductance regulator modulators on impaired glucose tolerance and cystic fibrosis related diabetes

Journal of clinical & translational endocrinology, 2022-09, Vol.29, p.100301-100301, Article 100301

2022

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Cystic Fibrosis mutation W19X in Tunisia: Second case identified

Tunisie Medicale, 2020-05, Vol.98 (5), p.420-422

Lamouchi, Mohamed Taher

2020

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Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T)

European journal of case reports in internal medicine, 2023, Vol.10 (1), p.003728-003728

2023

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Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations ‐ Evaluated in a cohort of 639 non‐vasectomized azoospermic men

Andrology (Oxford), 2021-03, Vol.9 (2), p.588-598

2021

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Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype

The Pediatric clinics of North America, 2016-08, Vol.63 (4), p.585-598

2016

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A phase 3, double-blind, parallel-group study to evaluate the efficacy and safety of tezacaftor in combination with ivacaftor in participants 6 through 11 years of age with cystic fibrosis homozygous for F508del or heterozygous for the F508del-CFTR mutation and a residual function mutation

The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context

CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India

Dépistage néonatal de la mucoviscidose en France : aspects pratiques et perspectives

A phase 3, randomized, double-blind, parallel-group study to evaluate tezacaftor/ivacaftor in people with cystic fibrosis heterozygous for F508del-CFTR and a gating mutation

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

Clinical efficacy of CFTR modulator therapy in people with cystic fibrosis carrying the I1234V mutation

CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank

Cystic Fibrosis: Emergence of Highly Effective Targeted Therapeutics and Potential Clinical Implications

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

Advanced pulmonary drug delivery formulations for the treatment of cystic fibrosis

Discovery of CFTR modulators for the treatment of cystic fibrosis

CFTR Modulator Therapy for Rare CFTR Mutants

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation

Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects

Aberrant immune programming in neutrophils in cystic fibrosis

Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis

The effect of cystic fibrosis transmembrane conductance regulator modulators on impaired glucose tolerance and cystic fibrosis related diabetes

Cystic Fibrosis mutation W19X in Tunisia: Second case identified

Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T)

Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations ‐ Evaluated in a cohort of 639 non‐vasectomized azoospermic men

Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype

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