Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

(2020) Anne Munck et al.   PEDIATRIC PULMONOLOGY

How to define CRMS/CFSPID conversion to CF

(2020) Michael J. Rock   PEDIATRIC PULMONOLOGY

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population

(2020) Katarzyna Zybert et al.   PEDIATRIC PULMONOLOGY

Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects

(2020) Marjolein Ensinck et al.   Cells

Qualitative exploration of health professionals’ experiences of communicating positive newborn bloodspot screening results for nine conditions in England

(2020) Jane Chudleigh et al.   BMJ Open

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

(2019) Vito Terlizzi et al.   Journal of Cystic Fibrosis

International approaches for delivery of positive newborn bloodspot screening results for CF

(2019) J. Chudleigh et al.   Journal of Cystic Fibrosis

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

(2019) Chee Y. Ooi et al.   BMC Pediatrics

The genetics and genomics of cystic fibrosis

(2019) N. Sharma et al.   Journal of Cystic Fibrosis

Abnormal Lung Clearance Index in Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Children with Otherwise Normal FEV1

(2019) Ajay S. Kasi et al.   LUNG

Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

(2018) Katherine Keenan et al.   Journal of Cystic Fibrosis

CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

(2017) Mireille Claustres et al.   HUMAN MUTATION

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe

(2017) Jürg Barben et al.   Journal of Cystic Fibrosis

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

(2017) Philip M. Farrell 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

Phenotypes of California CF Newborn Screen-Positive Children withCFTR5T Allele by TG Repeat Length

(2016) Danieli Barino Salinas et al.   Genetic Testing and Molecular Biomarkers

Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis

(2016) Juerg Barben et al.   Journal of Cystic Fibrosis

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

(2016) Natacha Gaitch et al.   PANCREATOLOGY

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

(2016) Danieli B. Salinas et al.   PLoS One

Newborn screening for cystic fibrosis

(2016) Carlo Castellani et al.   Lancet Respiratory Medicine

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

(2015) Mei W. Baker et al.   GENETICS IN MEDICINE

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

Clinical expression of patients with the D1152H CFTR mutation

(2015) Vito Terlizzi 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

New Challenges in the Diagnosis and Management of Cystic Fibrosis

(2015) Hara Levy 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

Newborn Screening for Cystic Fibrosis in California

(2015) M. Kharrazi et al.   PEDIATRICS

Uncertain diagnosis after newborn screening for cystic fibrosis: An ethics-based approach to a clinical dilemma

(2013) John Massie et al.   PEDIATRIC PULMONOLOGY

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

(2013) Chee Y Ooi et al.   THORAX

Evolution of Pancreatic Function during the First Year in Infants with Cystic Fibrosis

(2012) Brian P. O'Sullivan et al.   JOURNAL OF PEDIATRICS

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

(2012) Annette M M Vernooij-van Langen et al.   THORAX

Recommendations for the classification of diseases as CFTR-related disorders

(2011) C. Bombieri et al.   Journal of Cystic Fibrosis

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

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis

(2008) S.J. Mayell et al.   Journal of Cystic Fibrosis