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G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency

Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2033-n/a

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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Looking into the Quantification of Forensic Samples with Real-Time PCR

Genes, 2024-06, Vol.15 (6), p.759

2024

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Modulator Therapy in Cystic Fibrosis Patients with cis Variants in F508del Complex Allele: A Short-Term Observational Case Series

Journal of personalized medicine, 2022-08, Vol.12 (9), p.1421

2022

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S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy

Italian journal of pediatrics, 2018-01, Vol.44 (1), p.2-2, Article 2

2018

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Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy

Diagnostics (Basel), 2020-07, Vol.10 (7), p.446

2020

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Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience

International journal of neonatal screening, 2022-08, Vol.8 (3), p.46

2022

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Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present

Italian journal of pediatrics, 2021-01, Vol.47 (1), p.2-2, Article 2

2021

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Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?

Pediatric pulmonology, 2020-05, Vol.55 (5), p.1089-1093

2020

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Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy

Journal of cystic fibrosis, 2019-07, Vol.18 (4), p.484-490

2019

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Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype

Journal of cystic fibrosis, 2022-09, Vol.21 (5), p.850-855

2022

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Comparative Study for the Evaluation of a New Technology for Cystic Fibrosis Screening

American journal of clinical pathology, 2014-10, Vol.142 (suppl_1), p.A197-A197

2014

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Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling

Clinical biochemistry, 2011-07, Vol.44 (10), p.799-803

2011

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Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Genetics in medicine, 2005-11, Vol.7 (9), p.620-625

2005

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Optimal vaccination choice, vaccination games, and rational exemption: An appraisal

Vaccine, 2009-12, Vol.28 (1), p.98-109

2009

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RSV Disease Burden in Primary Care in Italy: A Multi‐Region Pediatric Study, Winter Season 2022–2023

Influenza and other respiratory viruses, 2024-04, Vol.18 (4), p.e13282-n/a

2024

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Treatment-free remission in patients with chronic myeloid leukemia: recommendations of the LALNET expert panel

Blood advances, 2021-12, Vol.5 (23), p.4855-4863

2021

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Value allocations in economies with coalition structure

Economics bulletin, 2008-08, Vol.3 (49), p.1-8

2008

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Optimal vaccination choice, vaccination games, and rational exemption: An appraisal

Vaccine, 2010, Vol.28 (1), p.98-109

2010

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G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency

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

Looking into the Quantification of Forensic Samples with Real-Time PCR

Modulator Therapy in Cystic Fibrosis Patients with cis Variants in F508del Complex Allele: A Short-Term Observational Case Series

S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy

Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience

Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present

Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?

Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype

Comparative Study for the Evaluation of a New Technology for Cystic Fibrosis Screening

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Optimal vaccination choice, vaccination games, and rational exemption: An appraisal

RSV Disease Burden in Primary Care in Italy: A Multi‐Region Pediatric Study, Winter Season 2022–2023

Treatment-free remission in patients with chronic myeloid leukemia: recommendations of the LALNET expert panel

Value allocations in economies with coalition structure

Optimal vaccination choice, vaccination games, and rational exemption: An appraisal

Clinical characteristics of women diagnosed with carcinoma who tested positive for cervical and anal high-risk human papillomavirus DNA and E6 RNA

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