Carlo Castellani
Carlo Castellani
Dirigente Medico, Istituto Gaslini
Verified email at
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Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
PM Farrell, BJ Rosenstein, TB White, FJ Accurso, C Castellani, ...
The Journal of pediatrics 153 (2), S4-S14, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ...
Journal of cystic fibrosis 7 (3), 179-196, 2008
Cystic fibrosis: terminology and diagnostic algorithms
K De Boeck, M Wilschanski, C Castellani, C Taylor, H Cuppens, J Dodge, ...
Thorax 61 (7), 627-635, 2006
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, N Sharma, ...
Nature genetics 45 (10), 1160-1167, 2013
Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, N Derichs, J Dodge, E Girodon, ...
Journal of Cystic Fibrosis 10, S86-S102, 2011
European best practice guidelines for cystic fibrosis neonatal screening
C Castellani, KW Southern, K Brownlee, JD Roelse, A Duff, M Farrell, ...
Journal of cystic fibrosis 8 (3), 153-173, 2009
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations
E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ...
European Journal of Human Genetics 17 (1), 51-65, 2009
A survey of newborn screening for cystic fibrosis in Europe
KW Southern, A Munck, R Pollitt, G Travert, L Zanolla, J Dankert-Roelse, ...
Journal of Cystic Fibrosis 6 (1), 57-65, 2007
Genetic modifiers of liver disease in cystic fibrosis
JR Bartlett, KJ Friedman, SC Ling, RG Pace, SC Bell, B Bourke, ...
Jama 302 (10), 1076-1083, 2009
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
H Witt, M Sahin-Tóth, O Landt, JM Chen, T Kähne, JPH Drenth, Z Kukor, ...
Nature genetics 38 (6), 668-673, 2006
ECFS best practice guidelines: the 2018 revision
C Castellani, AJA Duff, SC Bell, HGM Heijerman, A Munck, F Ratjen, ...
Journal of cystic fibrosis 17 (2), 153-178, 2018
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis
CY Ooi, R Dorfman, M Cipolli, T Gonska, C Castellani, K Keenan, ...
Gastroenterology 140 (1), 153-161, 2011
Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
PM Farrell, BJ Rosenstein, TB White, FJ Accurso, C Castellani, ...
J Pediatr 153 (2), S4-S14, 2008
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
SJ Mayell, A Munck, JV Craig, I Sermet, KG Brownlee, MJ Schwarz, ...
Journal of Cystic Fibrosis 8 (1), 71-78, 2009
Cystic fibrosis: a clinical view
C Castellani, BM Assael
Cellular and Molecular Life Sciences 74 (1), 129-140, 2017
Report of the European Respiratory Society/European Cystic Fibrosis Society task force on the care of adults with cystic fibrosis
JS Elborn, SC Bell, SL Madge, PR Burgel, C Castellani, S Conway, ...
European Respiratory Journal 47 (2), 420-428, 2016
Association between carrier screening and incidence of cystic fibrosis
C Castellani, L Picci, A Tamanini, P Girardi, P Rizzotti, BM Assael
Jama 302 (23), 2573-2579, 2009
Newborn screening for cystic fibrosis
C Castellani, J Massie, M Sontag, KW Southern
The Lancet Respiratory Medicine 4 (8), 653-661, 2016
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes …
C Férec, T Casals, N Chuzhanova, M Macek, T Bienvenu, A Holubova, ...
European journal of human genetics 14 (5), 567-576, 2006
Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease
AK Azad, R Rauh, F Vermeulen, M Jaspers, J Korbmacher, B Boissier, ...
Human mutation 30 (7), 1093-1103, 2009
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