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Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It

International journal of neonatal screening, 2020-09, Vol.6 (3), p.57-57

Castellani, Carlo

2020

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From Ivacaftor to Triple Combination: A Systematic Review of Efficacy and Safety of CFTR Modulators in People with Cystic Fibrosis

International journal of molecular sciences, 2020-08, Vol.21 (16), p.5882

2020

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Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

The Journal of pediatrics, 2008-08, Vol.153 (2), p.S4-S14

2008

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Newborn screening for cystic fibrosis

The lancet respiratory medicine, 2016-08, Vol.4 (8), p.653-661

2016

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Nature genetics, 2013-10, Vol.45 (10), p.1160-1167

2013

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Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13384

2023

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When triple therapy is not working: A reverse iceberg perspective

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.367-369

Castellani, Carlo

2023

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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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The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs

International journal of molecular sciences, 2022-03, Vol.23 (6), p.3175

2022

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Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators

International journal of molecular sciences, 2023-03, Vol.24 (7), p.6576

2023

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Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis

International journal of molecular sciences, 2021-04, Vol.22 (8), p.3928

2021

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In vivo public monitoring in emergency exposure scenarios

European physical journal plus, 2021-05, Vol.136 (5), p.490, Article 490

2021

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Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned

The Journal of pediatrics, 2017-02, Vol.181, p.S16-S26

2017

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Efficacy of advanced hybrid closed loop systems in cystic fibrosis related diabetes: a pilot study

Frontiers in endocrinology (Lausanne), 2024-06, Vol.15, p.1347141

2024

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Mental health and cystic fibrosis: Time to move from secondary prevention to predictive medicine

Pediatric pulmonology, 2020-09, Vol.55 (9), p.2204-2206

2020

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International intercomparison on internal dose assessment (ICIDOSE 2017)

Journal of radiological protection, 2020-06, Vol.40 (2), p.444-464

2020

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Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function

The Lancet (British edition), 2014-03, Vol.383 (9920), p.923-925

2014

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Healthcare reassessment in a pandemics time: challenges for CF

Journal of cystic fibrosis, 2020-03, Vol.19 (2), p.194-195

Castellani, Carlo

2020

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Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis

BMC pediatrics, 2019-10, Vol.19 (1), p.369-369, Article 369

2019

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Intraretinal changes in the presence of epiretinal traction

Graefe's archive for clinical and experimental ophthalmology, 2017-01, Vol.255 (1), p.31-38

2017

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A survey of newborn screening for cystic fibrosis in Europe

Journal of cystic fibrosis, 2007-01, Vol.6 (1), p.57-65

2007

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Early diagnosis from newborn screening maximises survival in severe cystic fibrosis

ERJ open research, 2018-04, Vol.4 (2), p.109

2018

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Simultaneous Quantification of Ivacaftor, Tezacaftor, and Elexacaftor in Cystic Fibrosis Patients' Plasma by a Novel LC-MS/MS Method

Biomedicines, 2023-02, Vol.11 (2), p.628

2023

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Cystic fibrosis: a clinical view

Cellular and molecular life sciences : CMLS, 2017-01, Vol.74 (1), p.129-140

2017

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Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It

From Ivacaftor to Triple Combination: A Systematic Review of Efficacy and Safety of CFTR Modulators in People with Cystic Fibrosis

The future of cystic fibrosis care: a global perspective

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Newborn screening for cystic fibrosis

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators

When triple therapy is not working: A reverse iceberg perspective

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

The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs

Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators

Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis

In vivo public monitoring in emergency exposure scenarios

Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned

Efficacy of advanced hybrid closed loop systems in cystic fibrosis related diabetes: a pilot study

Mental health and cystic fibrosis: Time to move from secondary prevention to predictive medicine

International intercomparison on internal dose assessment (ICIDOSE 2017)

Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function

Healthcare reassessment in a pandemics time: challenges for CF

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis

Intraretinal changes in the presence of epiretinal traction

A survey of newborn screening for cystic fibrosis in Europe

Early diagnosis from newborn screening maximises survival in severe cystic fibrosis

Simultaneous Quantification of Ivacaftor, Tezacaftor, and Elexacaftor in Cystic Fibrosis Patients' Plasma by a Novel LC-MS/MS Method

Cystic fibrosis: a clinical view

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