User profiles for "author:Carlo Castellani"
Carlo CastellaniDirigente Medico, Istituto Gaslini Verified email at gaslini.org Cited by 12256 |
[HTML][HTML] Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek Jr… - Journal of cystic …, 2008 - Elsevier
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …
The future of cystic fibrosis care: a global perspective
Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …
[HTML][HTML] ECFS best practice guidelines: the 2018 revision
C Castellani, AJA Duff, SC Bell, HGM Heijerman… - Journal of cystic …, 2018 - Elsevier
Developments in managing CF continue to drive dramatic improvements in survival. As
newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of …
newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of …
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
PM Farrell, BJ Rosenstein, TB White, FJ Accurso… - The Journal of …, 2008 - Elsevier
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is
soon likely to be in use throughout the United States, because early detection permits …
soon likely to be in use throughout the United States, because early detection permits …
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
PR Sosnay, KR Siklosi, F Van Goor, K Kaniecki, H Yu… - Nature …, 2013 - nature.com
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …
Cystic fibrosis: terminology and diagnostic algorithms
K De Boeck, M Wilschanski, C Castellani, C Taylor… - Thorax, 2006 - thorax.bmj.com
There is great heterogeneity in the clinical manifestations of cystic fibrosis (CF). Some
patients may have all the classical manifestations of CF from infancy and have a relatively …
patients may have all the classical manifestations of CF from infancy and have a relatively …
[HTML][HTML] European best practice guidelines for cystic fibrosis neonatal screening
C Castellani, KW Southern, K Brownlee… - Journal of Cystic …, 2009 - Elsevier
There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity,
decreased burden of care, and reduced costs. Risks are mainly associated with disclosure …
decreased burden of care, and reduced costs. Risks are mainly associated with disclosure …
Genetic modifiers of liver disease in cystic fibrosis
Context A subset (≈ 3%-5%) of patients with cystic fibrosis (CF) develops severe liver
disease with portal hypertension. Objective To assess whether any of 9 polymorphisms in 5 …
disease with portal hypertension. Objective To assess whether any of 9 polymorphisms in 5 …
[HTML][HTML] A survey of newborn screening for cystic fibrosis in Europe
KW Southern, A Munck, R Pollitt, G Travert… - Journal of Cystic …, 2007 - Elsevier
BACKGROUND: Cystic fibrosis (CF) is a recessively inherited condition caused by mutation
of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive …
of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive …
[HTML][HTML] Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations
E Dequeker, M Stuhrmann, MA Morris… - European Journal of …, 2009 - nature.com
The increasing number of laboratories offering molecular genetic analysis of the CFTR gene
and the growing use of commercial kits strengthen the need for an update of previous best …
and the growing use of commercial kits strengthen the need for an update of previous best …