Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening
Authors
Keywords
-
Journal
PEDIATRIC PULMONOLOGY
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2020-01-09
DOI
10.1002/ppul.24634
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His
- (2018) Katherine Keenan et al. Journal of Cystic Fibrosis
- The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe
- (2017) Jürg Barben et al. Journal of Cystic Fibrosis
- Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process
- (2017) Anne Munck et al. JOURNAL OF MEDICAL SCREENING
- Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era
- (2017) Michael J. Coffey et al. JOURNAL OF PEDIATRICS
- Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
- (2017) Clement L. Ren et al. JOURNAL OF PEDIATRICS
- Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
- (2017) Patrick R. Sosnay et al. JOURNAL OF PEDIATRICS
- Refining the continuum of CFTR-associated disorders in the era of newborn screening
- (2016) H. Levy et al. CLINICAL GENETICS
- Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening
- (2015) A. Munck et al. Journal of Cystic Fibrosis
- Long-Term Outcomes of Children with Intermediate Sweat Chloride Values in Infancy
- (2015) Tyler Groves et al. JOURNAL OF PEDIATRICS
- Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening
- (2015) C. Y. Ooi et al. PEDIATRICS
- Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening
- (2015) C. L. Ren et al. PEDIATRICS
- Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling and mutation-specific therapy
- (2014) Marie Pierre Audrézet et al. GENETICS IN MEDICINE
- Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
- (2013) Patrick R Sosnay et al. NATURE GENETICS
- Risk Factors for Bronchiectasis in Children with Cystic Fibrosis
- (2013) Peter D. Sly et al. NEW ENGLAND JOURNAL OF MEDICINE
- Prevalence of cystic fibrosis pathogens in the oropharynx of healthy children and implications for cystic fibrosis care
- (2012) Margaret Rosenfeld et al. Journal of Cystic Fibrosis
- The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis
- (2012) F. Nicole Dijk et al. Paediatric Respiratory Reviews
- The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
- (2009) C Thauvin-Robinet et al. JOURNAL OF MEDICAL GENETICS
- Bronchiectasis in Infants and Preschool Children Diagnosed with Cystic Fibrosis after Newborn Screening
- (2009) Stephen M. Stick et al. JOURNAL OF PEDIATRICS
- Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond
- (2009) Drucy Borowitz et al. JOURNAL OF PEDIATRICS
- Growth and long-term lung function in cystic fibrosis: A longitudinal study of patients diagnosed by neonatal screening
- (2009) Baroukh Maurice Assael et al. PEDIATRIC PULMONOLOGY
- Association between MucoidPseudomonasInfection and Bronchiectasis in Children with Cystic Fibrosis
- (2009) Philip M. Farrell et al. RADIOLOGY
- Update on fat-soluble vitamins in cystic fibrosis
- (2008) Asim Maqbool et al. CURRENT OPINION IN PULMONARY MEDICINE
- Implementation of the French Nationwide Cystic Fibrosis Newborn Screening Program
- (2008) Anne Munck et al. JOURNAL OF PEDIATRICS
- Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
- (2008) Philip M. Farrell et al. JOURNAL OF PEDIATRICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started