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Publications by Mario Buffelli

Impaired CFTR Function in Mild Cystic Fibrosis Associated With the S977f/T5TG12complex Allele in Trans With F508del Mutation

Journal of Cystic Fibrosis

English

Challenging the Diagnosis of Cystic Fibrosis in a Patient Carrying the 186-8t/C Allelic Variant in the CF Transmembrane Conductance Regulator Gene

BMC Pulmonary Medicine

Pulmonary

Respiratory Medicine

2014

English

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The Cystic Fibrosis F508del Mutation in Crohn's Disease

Journal of Cystic Fibrosis

English

CFTR F508del Mutation and 5T Allele in Patients With Chronic Pancreatitis and Pancreatic Adenocarcinoma

Acta chirurgica iugoslavica

2011

English

Thymosin Α-1 Does Not Correct F508del-CFTR in Cystic Fibrosis Airway Epithelia

JCI insight

Medicine

2018

English

Cysteamine Re-Establishes the Clearance of Pseudomonas Aeruginosa by Macrophages Bearing the Cystic Fibrosis-Relevant F508del-CFTR Mutation

Cell Death and Disease

Molecular Neuroscience

English

Thymosin Α-1 Does Not Correct F508del-CFTR in Cystic Fibrosis Airway Epithelia

JCI insight

Medicine

2019

English

Cystic Fibrosis Transmembrane Regulator (CFTR) Delta F508 Mutation and 5T Allele in Patients With Chronic Pancreatitis and Exocrine Pancreatic Cancer

Gut

Gastroenterology

2001

English

Prs16 - Modeled Survival Gains of Patients With Cystic Fibrosis (Cf) Aged ≥12 Years Heterozygous for F508del-CFTR and a Residual Function Mutation (F508del/Rf) Treated With the Cf Transmembrane Conductance Regulator Modulator (Cftrm) Tezacaftor/Ivacaftor (Tez/Iva)

English

Phenotypic Expression of the p.Leu1077Pro CFTR Mutation in Sicilian Cystic Fibrosis Patients

English

Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.

Journal of Medical Genetics

Genetics

1992

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Mario Buffelli

Impaired CFTR Function in Mild Cystic Fibrosis Associated With the S977f/T5TG12complex Allele in Trans With F508del Mutation

Challenging the Diagnosis of Cystic Fibrosis in a Patient Carrying the 186-8t/C Allelic Variant in the CF Transmembrane Conductance Regulator Gene

Related publications

The Cystic Fibrosis F508del Mutation in Crohn's Disease

CFTR F508del Mutation and 5T Allele in Patients With Chronic Pancreatitis and Pancreatic Adenocarcinoma

Thymosin Α-1 Does Not Correct F508del-CFTR in Cystic Fibrosis Airway Epithelia

Cysteamine Re-Establishes the Clearance of Pseudomonas Aeruginosa by Macrophages Bearing the Cystic Fibrosis-Relevant F508del-CFTR Mutation

Thymosin Α-1 Does Not Correct F508del-CFTR in Cystic Fibrosis Airway Epithelia

Cystic Fibrosis Transmembrane Regulator (CFTR) Delta F508 Mutation and 5T Allele in Patients With Chronic Pancreatitis and Exocrine Pancreatic Cancer

Prs16 - Modeled Survival Gains of Patients With Cystic Fibrosis (Cf) Aged ≥12 Years Heterozygous for F508del-CFTR and a Residual Function Mutation (F508del/Rf) Treated With the Cf Transmembrane Conductance Regulator Modulator (Cftrm) Tezacaftor/Ivacaftor (Tez/Iva)

Phenotypic Expression of the p.Leu1077Pro CFTR Mutation in Sicilian Cystic Fibrosis Patients

Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.